[{"@context":"http:\/\/schema.org\/","@type":"BlogPosting","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/14027#BlogPosting","mainEntityOfPage":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/14027","headline":"Hermansky-Pudlak-Syndrom-Wikipedia","name":"Hermansky-Pudlak-Syndrom-Wikipedia","description":"before-content-x4 Hermansky-Puque\u75c7\u5019\u7fa4 \uff08HPS\uff09\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u3001\u30e1\u30e9\u30cb\u30f3\u7d30\u80de\u3001\u304a\u3088\u3073\u8840\u5c0f\u677f\u306e\u30bb\u30ed\u30c8\u30cb\u30f3\u30b0\u30e9\u30cc\u30e9\uff08\u0394\u9846\u7c92\uff09\u306e\u30bb\u30ed\u30a4\u30c9\u304c\u767a\u751f\u3059\u308b\u307e\u308c\u306a\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u76ae\u819a\u3068\u7d50\u819c\u306e\u767d\u5316\u6027\u3001\u8840\u5c0f\u677f\u51dd\u96c6\u306e\u969c\u5bb3\u3068\u80ba\u7dda\u7dad\u75c7\u306e\u767a\u751f\u306b\u3088\u308b\u51fa\u8840\u306e\u50be\u5411\u306e\u5897\u52a0\u306b\u3088\u3063\u3066\u7279\u5fb4\u4ed8\u3051\u3089\u308c\u307e\u3059\u3002 after-content-x4 \u3053\u306e\u75c5\u6c17\u306f\u30011959\u5e74\u306b\u30c1\u30a7\u30b3\u306e\u5185\u79d1\u533bFranti\u0161ekHezmansk\u00fd\u3068PavelPudl\u00e1k\u306b\u3088\u3063\u3066\u6700\u521d\u306b\u8a18\u8ff0\u3055\u308c\u3001\u3053\u308c\u3089\u306e\u6700\u521d\u306e\u5f53\u5c40\u306b\u3061\u306a\u3093\u3067\u540d\u4ed8\u3051\u3089\u308c\u307e\u3057\u305f\u3002 [\u521d\u3081] Hermanansky Pudlak\u75c7\u5019\u7fa4\u306f\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u75ab\u5b66\u7684\u30c7\u30fc\u30bf\u304c\u4e0d\u8db3\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u4e16\u754c\u4e2d\u3067\u6563\u767a\u7684\u306b\u767a\u751f\u3057\u307e\u3059\u3002\u30d7\u30a8\u30eb\u30c8\u30ea\u30b3\u306e\u5317\u897f\u306b\u539f\u56e0\u4e0d\u660e\u306e\u539f\u56e0\u306e\u5730\u7406\u7684\u84c4\u7a4d\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u3001\u7d04400\u4eba\u306e\u60a3\u8005\uff08\u6709\u75c5\u73871\uff1a1800\uff09\u304c\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002 [2] \u30c9\u30a4\u30c4\u8a9e\u3092\u5360\u3081\u308b\u56fd\u306e\u6b63\u78ba\u306a\u6570\u306f\u4e0d\u660e\u3067\u3059\u3002 \u30ea\u30bd\u30bd\u30fc\u30e0\u306b\u95a2\u9023\u3059\u308b\u3044\u304f\u3064\u304b\u306e\u819c\u304c\u8986\u308f\u308c\u305f\u5c0f\u80de\u304c\u3042\u308a\u3001\u305d\u308c\u3089\u306e\u767a\u9054\u306e\u521d\u671f\u6bb5\u968e\u304c\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002\u6b21\u306e\u30aa\u30eb\u30ac\u30cd\u30e9\u306b\u306f\u305d\u308c\u3089\u304c\u542b\u307e\u308c\u307e\u3059\u3002 [3] after-content-x4 Hermanansky-Pudlak\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3057\u3066\u767a\u751f\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u75c5\u6c17\u306e\u75c7\u72b6\u3068\u4f4e\u3044\u75c7\u72b6\u306e\u4e21\u65b9\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u306b\u95a2\u9023\u3059\u308b\u3053\u306e\u5c0f\u80de\u306e\u8aa4\u52d5\u4f5c\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u30a2\u30eb\u30d3\u30cb\u30ba\u30e0\u306f\u3001\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u306b\u304a\u3051\u308b\u975e\u6a5f\u80fd\u7684\u30e1\u30e9\u30cb\u30f3\u5408\u6210\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002\u51fa\u8840\u3059\u308b\u50be\u5411\u306f\u3001\u8840\u5c0f\u677f\u304c\u51fa\u8840\uff08\u8840\u5c0f\u677f\u51dd\u96c6\uff09\u306e\u584a\u304c\u306a\u3044\u3068\u3044\u3046\u4e8b\u5b9f\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u80ba\u7dda\u7dad\u75c7\u306f\u3001\u80ba\u80de\u7d30\u80de\u306e\u7570\u5e38\u306a\u300c\u5c64\u72b6\u4f53\u300d\u306b\u623b\u308a\u307e\u3059\u3002 Hermanansky Pudlak\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u306e\u30de\u30a6\u30b9\u30e2\u30c7\u30eb\u3067\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u304c\u6392\u6cc4\u3055\u308c\u307e\u3059\u3002\u6b20\u9665\u306e\u3042\u308b\u7d30\u80de\u6bd2\u6027\u9846\u7c92\u306f\u3001\u7d30\u80de\u6bd2\u6027T\u30ea\u30f3\u30d1\u7403\u306e\u4e71\u308c\u305f\u6d3b\u6027\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u8efd\u5ea6\u306e\u795e\u7d4c\u30bb\u30e9\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u306f\u3001\u304a\u305d\u3089\u304f\u30ea\u30bd\u30bd\u30fc\u30e0\u306e\u7834\u58ca\u306e\u60aa\u5316\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002 [3] Table of Contents","datePublished":"2021-05-13","dateModified":"2021-05-13","author":{"@type":"Person","@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/author\/lordneo#Person","name":"lordneo","url":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/author\/lordneo","image":{"@type":"ImageObject","@id":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/44a4cee54c4c053e967fe3e7d054edd4?s=96&d=mm&r=g","height":96,"width":96}},"publisher":{"@type":"Organization","name":"Enzyklop\u00e4die","logo":{"@type":"ImageObject","@id":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","url":"https:\/\/wiki.edu.vn\/wiki4\/wp-content\/uploads\/2023\/08\/download.jpg","width":600,"height":60}},"image":{"@type":"ImageObject","@id":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/0\/03\/P_medicine_caution.svg\/25px-P_medicine_caution.svg.png","url":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/0\/03\/P_medicine_caution.svg\/25px-P_medicine_caution.svg.png","height":"29","width":"25"},"url":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/14027","wordCount":1498,"articleBody":"     (adsbygoogle = window.adsbygoogle || []).push({});before-content-x4 Hermansky-Puque\u75c7\u5019\u7fa4 \uff08HPS\uff09\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u3001\u30e1\u30e9\u30cb\u30f3\u7d30\u80de\u3001\u304a\u3088\u3073\u8840\u5c0f\u677f\u306e\u30bb\u30ed\u30c8\u30cb\u30f3\u30b0\u30e9\u30cc\u30e9\uff08\u0394\u9846\u7c92\uff09\u306e\u30bb\u30ed\u30a4\u30c9\u304c\u767a\u751f\u3059\u308b\u307e\u308c\u306a\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u76ae\u819a\u3068\u7d50\u819c\u306e\u767d\u5316\u6027\u3001\u8840\u5c0f\u677f\u51dd\u96c6\u306e\u969c\u5bb3\u3068\u80ba\u7dda\u7dad\u75c7\u306e\u767a\u751f\u306b\u3088\u308b\u51fa\u8840\u306e\u50be\u5411\u306e\u5897\u52a0\u306b\u3088\u3063\u3066\u7279\u5fb4\u4ed8\u3051\u3089\u308c\u307e\u3059\u3002        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4\u3053\u306e\u75c5\u6c17\u306f\u30011959\u5e74\u306b\u30c1\u30a7\u30b3\u306e\u5185\u79d1\u533bFranti\u0161ekHezmansk\u00fd\u3068PavelPudl\u00e1k\u306b\u3088\u3063\u3066\u6700\u521d\u306b\u8a18\u8ff0\u3055\u308c\u3001\u3053\u308c\u3089\u306e\u6700\u521d\u306e\u5f53\u5c40\u306b\u3061\u306a\u3093\u3067\u540d\u4ed8\u3051\u3089\u308c\u307e\u3057\u305f\u3002 [\u521d\u3081] Hermanansky Pudlak\u75c7\u5019\u7fa4\u306f\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u75ab\u5b66\u7684\u30c7\u30fc\u30bf\u304c\u4e0d\u8db3\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u4e16\u754c\u4e2d\u3067\u6563\u767a\u7684\u306b\u767a\u751f\u3057\u307e\u3059\u3002\u30d7\u30a8\u30eb\u30c8\u30ea\u30b3\u306e\u5317\u897f\u306b\u539f\u56e0\u4e0d\u660e\u306e\u539f\u56e0\u306e\u5730\u7406\u7684\u84c4\u7a4d\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u3001\u7d04400\u4eba\u306e\u60a3\u8005\uff08\u6709\u75c5\u73871\uff1a1800\uff09\u304c\u5831\u544a\u3055\u308c\u307e\u3057\u305f\u3002 [2] \u30c9\u30a4\u30c4\u8a9e\u3092\u5360\u3081\u308b\u56fd\u306e\u6b63\u78ba\u306a\u6570\u306f\u4e0d\u660e\u3067\u3059\u3002 \u30ea\u30bd\u30bd\u30fc\u30e0\u306b\u95a2\u9023\u3059\u308b\u3044\u304f\u3064\u304b\u306e\u819c\u304c\u8986\u308f\u308c\u305f\u5c0f\u80de\u304c\u3042\u308a\u3001\u305d\u308c\u3089\u306e\u767a\u9054\u306e\u521d\u671f\u6bb5\u968e\u304c\u5171\u901a\u3057\u3066\u3044\u307e\u3059\u3002\u6b21\u306e\u30aa\u30eb\u30ac\u30cd\u30e9\u306b\u306f\u305d\u308c\u3089\u304c\u542b\u307e\u308c\u307e\u3059\u3002 [3]        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4Hermanansky-Pudlak\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3057\u3066\u767a\u751f\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u75c5\u6c17\u306e\u75c7\u72b6\u3068\u4f4e\u3044\u75c7\u72b6\u306e\u4e21\u65b9\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u306b\u95a2\u9023\u3059\u308b\u3053\u306e\u5c0f\u80de\u306e\u8aa4\u52d5\u4f5c\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u30a2\u30eb\u30d3\u30cb\u30ba\u30e0\u306f\u3001\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u306b\u304a\u3051\u308b\u975e\u6a5f\u80fd\u7684\u30e1\u30e9\u30cb\u30f3\u5408\u6210\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002\u51fa\u8840\u3059\u308b\u50be\u5411\u306f\u3001\u8840\u5c0f\u677f\u304c\u51fa\u8840\uff08\u8840\u5c0f\u677f\u51dd\u96c6\uff09\u306e\u584a\u304c\u306a\u3044\u3068\u3044\u3046\u4e8b\u5b9f\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u80ba\u7dda\u7dad\u75c7\u306f\u3001\u80ba\u80de\u7d30\u80de\u306e\u7570\u5e38\u306a\u300c\u5c64\u72b6\u4f53\u300d\u306b\u623b\u308a\u307e\u3059\u3002 Hermanansky Pudlak\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u306e\u30de\u30a6\u30b9\u30e2\u30c7\u30eb\u3067\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u304c\u6392\u6cc4\u3055\u308c\u307e\u3059\u3002\u6b20\u9665\u306e\u3042\u308b\u7d30\u80de\u6bd2\u6027\u9846\u7c92\u306f\u3001\u7d30\u80de\u6bd2\u6027T\u30ea\u30f3\u30d1\u7403\u306e\u4e71\u308c\u305f\u6d3b\u6027\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u8efd\u5ea6\u306e\u795e\u7d4c\u30bb\u30e9\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u306f\u3001\u304a\u305d\u3089\u304f\u30ea\u30bd\u30bd\u30fc\u30e0\u306e\u7834\u58ca\u306e\u60aa\u5316\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002 [3] Table of Contents\u30d6\u30ed\u30c3\u30af [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u30a2\u30c0\u30d7\u30bf\u30fc\u30bf\u30f3\u30d1\u30af\u8cea-3\uff08AP3\uff09 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] Hermanansky-Pudlak\u75c7\u5019\u7fa4\u306e\u3055\u307e\u3056\u307e\u306a\u5f62\u614b\u306e\u6982\u8981 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u500b\u5225\u306b [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u30d6\u30ed\u30c3\u30af [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u30d6\u30ed\u30c3\u30af\u306f\u306e\u305f\u3081\u306e\u7565\u8a9e\u3067\u3059\u300d b \u306e\u30a2\u30a4\u30b2\u30f3\u5316 l \u30a4\u30bd\u30bd\u30fc\u30e0\u95a2\u9023 o rganelles c Omplex “\u3002\u6587\u5b57\u901a\u308a\u3001\u3053\u306e\u8868\u73fe\u306f\u300c\u30ea\u30bd\u30bd\u30fc\u30e0\u306b\u95a2\u9023\u3059\u308b\u30aa\u30eb\u30ac\u30cd\u30e9\u3092\u69cb\u7bc9\u3059\u308b\u305f\u3081\u306e\u8907\u96d1\u300d\u3092\u610f\u5473\u3057\u307e\u3059\u3002 bloc1 HPS7\u30bf\u30f3\u30d1\u30af\u8cea\u30b8\u30b9\u30d3\u30f3\u30c7\u30a3\u30f3\u3001HPS8\u30bf\u30f3\u30d1\u30af\u8cea\u3001\u30d1\u30ea\u30b8\u30f3\u3001\u30df\u30e5\u30fc\u30c8\u3001\u30ab\u30d7\u30c1\u30fc\u30ce\u3001\u30b9\u30ca\u30d4\u30f3\u3001BLOS1\u3001\u304a\u3088\u3073BLOS2\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4ed6\u306e\u672a\u77e5\u306e\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002 Dysbindin\u304a\u3088\u3073HPS8\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u30d2\u30c8\u3068\u30de\u30a6\u30b9\u306eHermansky Pudlak\u75c7\u5019\u7fa4\u306e\u5f15\u304d\u91d1\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u30d1\u30ea\u30b8\u30f3\u3001\u30df\u30e5\u30fc\u30c8\u3001\u30ab\u30d7\u30c1\u30fc\u30ce\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u3057\u3066\u30de\u30a6\u30b9\u3067\u306e\u307f\u8a3c\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002 BLOC1\u306f\u3001\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0 – \u30ea\u30bd\u30bd\u30fc\u30e0\u7cfb\u306b\u5c5e\u3059\u308b\u7279\u6b8a\u306a\u30aa\u30eb\u30ac\u30cd\u30e9\u306e\u69cb\u9020\u306b\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002 [4] [3] [5]        (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4bloc2 HPS3\u3001HPS5\u3001\u304a\u3088\u3073HPS6\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u521d\u671f\u306e\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u306e\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u5411\u3051\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4e00\u90e8\u3092\u5272\u308a\u5f53\u3066\u305f\u308a\u3001\u3053\u308c\u3089\u306e\u8f38\u9001\u5c0f\u80de\u3068\u719f\u6210\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u306e\u878d\u5408\u306b\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002 BLOC2\u304c\u6a5f\u80fd\u3057\u306a\u3044\u5834\u5408\u3001\u3053\u308c\u3089\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u306b\u8f38\u9001\u3055\u308c\u307e\u305b\u3093\u3002\u4ee3\u308f\u308a\u306b\u3001\u305d\u308c\u3089\u306f\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u3068\u7d30\u80de\u819c\u306e\u9593\u3092\u884c\u304d\u6765\u3057\u3001\u6700\u7d42\u7684\u306b\u5206\u89e3\u3055\u308c\u307e\u3059\u3002 [6] [7] \u306b bloc3 HPS1\u304a\u3088\u3073HPS4\u306b\u5c5e\u3057\u307e\u3059\u3002\u304b\u3089 bloc4 \u3068 bloc5 HPS1\u3068\u3057\u3066\u306e\u307f\u30b3\u30f3\u30dd\u30fc\u30cd\u30f3\u30c8\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002 Bloc3\u3001Bloc4\u3001\u304a\u3088\u3073Bloc5\u306f\u7d30\u80de\u8840\u6f3f\u306b\u898b\u3089\u308c\u3001\u30e1\u30e9\u30ce\u30bd\u30fc\u30e0\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u3001\u30bb\u30ed\u30c8\u30cb\u30f3\u30f3\u30b8\u30e3\u30e9\u30cc\u30e9\uff08\u0394-\u9846\u7c92\uff09\u306a\u3069\u306e\u30aa\u30eb\u30ac\u30cd\u30e9\u306e\u5f62\u6210\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002 [8] [9] \u30a2\u30c0\u30d7\u30bf\u30fc\u30bf\u30f3\u30d1\u30af\u8cea-3\uff08AP3\uff09 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u30a2\u30c0\u30d7\u30bf\u30fc\u30bf\u30f3\u30d1\u30af\u8cea-3\uff08AP3\uff09\u306f\u7d30\u80de\u8840\u6f3f\u306b\u5206\u5e03\u3057\u3001\u30c8\u30e9\u30f3\u30b9\u30b4\u30eb\u30b8\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304a\u3088\u3073\u30a8\u30f3\u30c9\u30bd\u30fc\u30e0\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304b\u3089\u30ea\u30bd\u30bd\u30fc\u30e0\u306b\u95a2\u9023\u3059\u308b\u30aa\u30eb\u30ac\u30cd\u30e9\u306b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u8f38\u9001\u3057\u307e\u3059\u3002 [\u5341] Hermanansky-Pudlak\u75c7\u5019\u7fa4\u306e\u3055\u307e\u3056\u307e\u306a\u5f62\u614b\u306e\u6982\u8981 [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u75c7\u5019\u7fa4 \u67d3\u8272\u4f53\uff08\u30b8\u30e3\u30f3\u30eb\uff09 Gen\u307e\u305f\u306f\u30bf\u30f3\u30d1\u30af\u8cea\u540d\uff08\u4ee3\u66ff\u540d\uff09 \u305d\u308c\u304c\u5c5e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u8907\u5408\u4f53 Hermansky-Pudlak-Syndrom\u30bf\u30a4\u30d71 \u67d3\u8272\u4f5310\uff0810q23.1-q23.3\uff09 [8] HPS1 Bloc-3\u3001bloc4\u304a\u3088\u3073bloc5\u3002 [8] Hermansky-Pudlak-Syndrom\u30bf\u30a4\u30d72 \u67d3\u8272\u4f535\uff085Q14.1\uff09 [\u5341] HPS2\u307e\u305f\u306fAP3B1 [\u5341] AP3 [\u5341] Hermansky-Pudlak-Syndrom\u30bf\u30a4\u30d73 \u67d3\u8272\u4f533\uff083Q24\uff09 [11] HPS3 [11] bloc2 [7] Hermansky-Pudlak-Syndrom\u30bf\u30a4\u30d74 \u67d3\u8272\u4f5322\uff0822q11.2-q12.2\uff09 [9] HPS4 bloc3 [9] Hermansky-Pudlak-Syndrom\u30bf\u30a4\u30d75 \u67d3\u8272\u4f5311\uff0811p15-p13\uff09 [12\u756a\u76ee] PS 55\uff08OE 16-6ru Rub ru Ruits 20\uff09\u30012017\u5e74\u3001Wolog-Rogragraphrologists 33\uff0933\uff09 [12\u756a\u76ee] bloc2 [12\u756a\u76ee] [13] Hermansky-Pudlak-Syndrom\u30bf\u30a4\u30d76 \u67d3\u8272\u4f5310\uff0810q24.32\uff09 [13] HP66\uff08Horean Rus Rub-Ru Ruit Ruit lia\uff09\uff08Bion\uff09 [13] bloc2 [12\u756a\u76ee] [13] Hermansky-Pudlak-Syndrom\u30bf\u30a4\u30d77 \u67d3\u8272\u4f536\uff086p22.3\uff09 [5] \u30b8\u30b9\u30c8\u30ed\u30d6\u30ec\u30d3\u30f3\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea1\uff08DTNBP1\u3001\u30b8\u30b9\u30d3\u30f3\u30c7\u30a3\u30f3\u3001\u30de\u30a6\u30b9\u306e\u7802\u8cea\u907a\u4f1d\u5b50\uff08SDY\uff09\u3078\u306e\u30db\u30e2\u30ed\u30b0\uff09 [5] bloc1 [5] Hermansky-Pudlak-Syndrom\u30bf\u30a4\u30d78 \u67d3\u8272\u4f5319\uff0819q13\uff09 [4] HPS8\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u95a2\u9023\u306e\u30aa\u30eb\u30ac\u30cd\u30e9\u8907\u5408\u4f531\u3001\u30b5\u30d6\u30e6\u30cb\u30c3\u30c83\uff08Bloc1S3\u3001Bloc1\u3001Subunit 3; Blos3\u3001\u30db\u30e2\u30ed\u30b0Zum\u6e1b\u5c11\u6a19\u8b58\u7bc0der Maus\uff08RP\uff09\uff09\u306e\u751f\u7269\u767a\u751f bloc1 [4] \u73fe\u5728\u3001\u56e0\u679c\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4ee5\u524d\u306e\u7814\u7a76\u306e\u72b6\u6cc1\u306b\u3088\u308c\u3070\u3001\u30b0\u30eb\u30b3\u30b3\u30eb\u30c1\u30b3\u30a4\u30c9\u306f\u75c5\u6c17\u306e\u7d4c\u904e\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u305b\u3093\u3002\u3057\u305f\u304c\u3063\u3066\u3001Hermanansky Pudlak\u75c7\u5019\u7fa4\u306f\u75c7\u72b6\u306e\u3042\u308b\u72b6\u614b\u3067\u306e\u307f\u6cbb\u7642\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u75be\u60a3\u306e\u7d4c\u904e\u3001\u7279\u306b\u80ba\u7dda\u7dad\u75c7\u306e\u9032\u884c\u306f\u3001\u80ba\u306e\u5371\u967a\u56e0\u5b50\u306e\u5f71\u97ff\u306b\u3088\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 B.\u55ab\u7159\u3001\u60aa\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3002\u80ba\u708e\u306e\u767a\u751f\u306a\u3069\u306e\u5408\u4f75\u75c7\u306e\u78ba\u7387\u306f\u3001\u4e88\u9632\u7684\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\u306b\u3088\u3063\u3066\u6e1b\u5c11\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u4f55\u3088\u308a\u3082\u80ba\u708e\u7403\u83cc\u304a\u3088\u3073\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\uff08\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u30ef\u30af\u30c1\u30f3\u63a5\u7a2e\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u8840\u5c0f\u677f\u6a5f\u80fd\u304c\u5236\u9650\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u8840\u5c0f\u677f\u51dd\u96c6\u963b\u5bb3\u5264\u306f\u76f8\u5bfe\u7684\u306a\u7981\u5fcc\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002 V.\u30dd\u30ec\u30c3\u30c6\u30a3u\u3002 a\u3002\uff1a \u307e\u308c\u306a\u6d78\u6f64\u6027\u80ba\u75be\u60a3\uff1a\u81e8\u5e8a\u533b\u306b\u3068\u3063\u3066\u306e\u8ab2\u984c\u3002 \u306e\uff1a \u547c\u5438\u3002 2004 SEP-OCT; 71\uff085\uff09\u3001S\u3002431\u2013443 PMID 15467318 \u3002 H. Burkhardt u\u3002 a\u3002\uff1a 71\u6b73\u306e\u60a3\u8005\u306e\u80ba\u7dda\u7dad\u75c7\u306e\u7570\u5e38\u306a\u539f\u56e0\u3002 \u306e\uff1a \u8a3a\u7642\u6240\u3002 2002; 97\u3001S\u3002165\u2013169\uff08no\u30023\uff09\u3002\u4e8c\uff1a 10.1007\/s00063-002-1141-0 \u30cf\u30ea\u30bd\u30f3\u306e\u5185\u79d1\u3002 \u7b2c15\u7248\u3002 Verw Wissenschaftsverlag\u3001\u30d9\u30eb\u30ea\u30f32003\u3001ISBN 3-936072-10-8\u3002 \u500b\u5225\u306b [ \u7de8\u96c6 | \u30bd\u30fc\u30b9\u30c6\u30ad\u30b9\u30c8\u3092\u7de8\u96c6\u3057\u307e\u3059 ] \u2191  F. Hermansky\u3001P\u3002Pudlak\uff1a \u9aa8\u9ac4\u306e\u51fa\u8840\u6027\u73ea\u85fb\u304a\u3088\u3073\u7570\u5e38\u306a\u8272\u7d20\u7db2\u72b6\u7d30\u80de\u306b\u95a2\u9023\u3059\u308b\u767d\u76ae\u75c7\u3002 \u306e\uff1a \u8840\u3002 1959\u300114\u3001S\u3002162\u2013169\u3002  \u2191  V. Shotleersuk u\u3002 a\u3002\uff1a Hermansky-Pudlak\u75c7\u5019\u7fa4\uff1a\u7d30\u80de\u5185\u5c0f\u80de\u5f62\u6210\u306e\u30e2\u30c7\u30eb\u3002 \u306e\uff1a Mol Genet Metab\u3002 1998; 65\u3001S\u300285\u201396\u3002  \u2191 a b c  M. Starcevic\u3001E\u3002C. of Angelica\uff1a \u30b9\u30ca\u30d4\u30f3\u30683\u3064\u306e\u65b0\u898f\u30bf\u30f3\u30d1\u30af\u8cea\uff08BLOS1\u3001BLOS2\u3001\u304a\u3088\u3073BLOS3\/\u8272\u7d20\u6c88\u7740\u306e\u6e1b\u5c11\uff09\u306e\u540c\u5b9a\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u95a2\u9023\u306e\u30aa\u30eb\u30ac\u30cd\u30e9\u8907\u5408\u4f53-1\uff08BLOC-1\uff09\u306e\u751f\u5408\u6210\u306e\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3068\u3057\u3066\u306e\u540c\u5b9a\u3002 \u306e\uff1a J Biol Chem\u3002 2004\u5e747\u67082\u65e5; 279\uff0827\uff09\u3001S\u300228393\u201328401\u3002 EPUB 2004 4\u670821\u65e5\u3002 PMID 15102850 \u3002  \u2191 a b c  HPS8 Hermansky-Pudlak\u75c7\u5019\u7fa48\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09\u3002  \u2191 a b c d  HPS7 Hermansky-Pudlak\u75c7\u5019\u7fa47\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09\u3002  \u2191  \u30a2\u30de\u30f3\u30c0\u30fb\u30d8\u30ea\u30c3\u30d7\u30fb\u30a6\u30fc\u30ea\u30fc\u3001\u30a6\u30a7\u30f3\u30c7\u30a3\u30fb\u30a6\u30a7\u30b9\u30c8\u30d6\u30ed\u30fc\u30af\u3001\u30cf\u30a4\u30c7\u30a3\u30fbM\u30fb\u30c9\u30fc\u30ef\u30fc\u30c9\u3001\u30a8\u30a4\u30df\u30fc\u30fb\u30b3\u30b7\u30e5\u30d5\u30d5\u30a1\u30fc\u3001\u30de\u30fc\u30b8\u30e3\u30f3\u30fb\u30d2\u30e5\u30fc\u30ba\u3001\u30ec\u30a4\u30e2\u30f3\u30c9\u30fbE\u30fb\u30dc\u30a4\u30b7\u30fc\u3001\u30a6\u30a3\u30ea\u30a2\u30e0\u30fbA\u30fb\u30ac\u30fc\u30eb\uff1a Hermansky \u2013 Pudlak\u75c7\u5019\u7fa4\u30bf\u30a4\u30d7-5\u306e\u30e1\u30e9\u30ce\u30b5\u30a4\u30c8\u7279\u7570\u7684\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u4e0d\u9069\u5207\u306a\u4eba\u8eab\u58f2\u8cb7\u3002 \u306e\uff1a J\u6295\u8cc7\u30c7\u30eb\u30de\u30c8\u30fc\u30eb\u3002 2077\u5e746\u6708\u3002\u30d8\u30eb\u30d7AB 2007 Mid 15\u3002 PMID 17301833 \u3002  \u2191 a b  S. M. Di-Pietro\u3001J\u3002M\u3002Falc\u00f3n-P\u00e9rez\u3001E\u3002C\u3002of Angelica\uff1a Bloc-2\u306e\u7279\u6027\u8a55\u4fa1\u3001Hermansky-Pudlak\u75c7\u5019\u7fa4\u30bf\u30f3\u30d1\u30af\u8ceaHPS3\u3001HPS5\u3001\u304a\u3088\u3073HPS6\u3092\u542b\u3080\u8907\u5408\u4f53\u3002 \u306e\uff1a \u6e0b\u6ede\u3002 2004\u5e744\u6708; 5\uff084\uff09\u3001S\u3002276\u2013283\u3002 PMID 15030569 \u3002  \u2191 a b c  NCBI\u306f\u907a\u4f1d\u5b50\u3092\u5165\u529b\u3057\u307e\u3059 HPS1 Hermansky-Pudlak\u75c7\u5019\u7fa41\uff08Homo Sapiens\uff09 \u6cbb\u7652\uff1a3257\u3002  \u2191 a b c  HPS4 Hermansky-Pudlak\u75c7\u5019\u7fa44\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09\u3002  \u2191 a b c d  HPS2 Hermansky-Pudlak\u75c7\u5019\u7fa42\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09\u3002  \u2191 a b  HPS3 Hermansky-Pudlak\u75c7\u5019\u7fa43\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09\u3002  \u2191 a b c d  HPS5 Hermansky-Pudlak\u75c7\u5019\u7fa45\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09\u3002  \u2191 a b c d  HPS6 Hermansky-Pudlak\u75c7\u5019\u7fa46\u3002 \u306e\uff1a \u4eba\u9593\u306e\u30aa\u30f3\u30e9\u30a4\u30f3\u30e1\u30f3\u30c7\u30eb\u306e\u76f8\u7d9a \u3002 \uff08\u82f1\u8a9e\uff09\u3002  \u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u5065\u5eb7\u554f\u984c\u3092\u6271\u3044\u307e\u3059\u3002\u5f7c\u306f\u4ed5\u3048\u307e\u3059 \u3044\u3044\u3048 \u81ea\u5df1\u8a3a\u65ad\u3068\u4ea4\u63db \u3044\u3044\u3048 \u533b\u5e2b\u306b\u3088\u308b\u8a3a\u65ad\u3002\u5065\u5eb7\u554f\u984c\u306b\u95a2\u3059\u308b\u30e1\u30e2\u306b\u6ce8\u610f\u3057\u3066\u304f\u3060\u3055\u3044\uff01       (adsbygoogle = window.adsbygoogle || []).push({});after-content-x4"},{"@context":"http:\/\/schema.org\/","@type":"BreadcrumbList","itemListElement":[{"@type":"ListItem","position":1,"item":{"@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/#breadcrumbitem","name":"Enzyklop\u00e4die"}},{"@type":"ListItem","position":2,"item":{"@id":"https:\/\/wiki.edu.vn\/all2jp\/wiki11\/archives\/14027#breadcrumbitem","name":"Hermansky-Pudlak-Syndrom-Wikipedia"}}]}]