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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u6cbb\u7642\u3068\u3001\u751f\u6d3b\u3092\u652f\u3048\u308b\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3001<strong>\u304a\u5b50\u3055\u307e\u304c\u3067\u304d\u308b\u3060\u3051\u5fc3\u5730\u3088\u304f\u904e\u3054\u305b\u308b\u3088\u3046\u306b\u3059\u308b\u3053\u3068\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u65e5\u672c\u3067\u306f\u56fd\u306e\u6307\u5b9a\u96e3\u75c5\u306b\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u533b\u7642\u8cbb\u306e\u52a9\u6210\u306e\u5bfe\u8c61\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6804\u990a\u306e\u652f\u63f4<\/strong>\uff1a\u98df\u4e8b\u306e\u5de5\u592b\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u80c3\u308d\u3046\u306a\u3069\u306b\u3088\u308b\u6804\u990a\u88dc\u7d66\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u65e5\u5149\u5bfe\u7b56<\/strong>\uff1a\u65e5\u713c\u3051\u6b62\u3081\u3001\u5e3d\u5b50\u3001\u9577\u8896\u306e\u8863\u670d\u306a\u3069\u3067\u7d2b\u5916\u7dda\u3092\u907f\u3051\u307e\u3059<\/li>\n\n\n\n<li><strong>\u76ee\u3068\u8033\u306e\u30b1\u30a2<\/strong>\uff1a\u767d\u5185\u969c\u306e\u624b\u8853\u3001\u88dc\u8074\u5668\u306e\u4f7f\u7528\u3001\u5b9a\u671f\u7684\u306a\u8996\u529b\u30fb\u8074\u529b\u306e\u691c\u67fb<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u95a2\u7bc0\u304c\u56fa\u304f\u306a\u308b\u306e\u3092\u9632\u304e\u3001\u52d5\u304d\u3084\u59ff\u52e2\u3092\u4fdd\u3064\u305f\u3081\u306e\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u30c1\u30a7\u30c3\u30af<\/strong>\uff1a\u8840\u5727\u3001\u814e\u81d3\u30fb\u809d\u81d3\u306e\u306f\u305f\u3089\u304d\u3001\u6b6f\u306e\u72b6\u614b\u3092\u78ba\u8a8d\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u304a\u85ac\u3078\u306e\u6ce8\u610f<\/strong>\uff1a<strong>\u30e1\u30c8\u30ed\u30cb\u30c0\u30be\u30fc\u30eb\u3068\u3044\u3046\u6297\u83cc\u85ac\u3067\u91cd\u3044\u809d\u969c\u5bb3\u304c\u8d77\u304d\u305f\u5831\u544a\u304c\u3042\u308b\u305f\u3081\u3001\u4f7f\u7528\u306f\u907f\u3051\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u3066\u3044\u307e\u3059<\/strong>\u3002\u53d7\u8a3a\u306e\u969b\u306f\u75c5\u540d\u3092\u5fc5\u305a\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u7642\u80b2\u3001\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3001\u5fc3\u7406\u7684\u306a\u652f\u3048\u3092\u542b\u3081\u3001\u7d99\u7d9a\u7684\u306b\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>ERCC8<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n<p class=\"wp-block-paragraph\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>ERCC8<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/carrier-screening-1200\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c81,200\uff0b\u306e\u30da\u30fc\u30b8<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>ERCC8<\/strong> \u304c\u30b3\u30fc\u30c9\u3059\u308bCSA\u306f<strong>WD40\u30ea\u30d4\u30fc\u30c8\u3092\u3082\u3064\u305f\u3093\u3071\u304f\u8cea<\/strong>\u3067\u3001DDB1\u30fbCUL4A\u30fbRBX1\u3068\u3068\u3082\u306b<strong>CRL4\u578b\u30e6\u30d3\u30ad\u30c1\u30f3\u30ea\u30ac\u30fc\u30bc\u8907\u5408\u4f53\uff08CRL4-CSA\uff09<\/strong>\u3092\u5f62\u6210\u3059\u308b\u3002DNA\u640d\u50b7\u3067\u505c\u6b62\u3057\u305fRNA\u30dd\u30ea\u30e1\u30e9\u30fc\u30bcII\u306bCSB\u304c\u7d50\u5408\u3057\u3001\u7d9a\u3044\u3066CSA\u8907\u5408\u4f53\u304c\u52d5\u54e1\u3055\u308c\u3001UVSSA\u306e\u547c\u3073\u8fbc\u307f\u3084\u30e6\u30d3\u30ad\u30c1\u30f3\u5316\u3092\u4ecb\u3057\u3066<strong>\u8ee2\u5199\u5171\u5f79\u30cc\u30af\u30ec\u30aa\u30c1\u30c9\u9664\u53bb\u4fee\u5fa9\uff08TC-NER\uff09<\/strong>\u304c\u9032\u884c\u3059\u308b\u3002CSA\u6b20\u640d\u3067\u306fTC-NER\u304c\u7834\u7dbb\u3057\u3001<strong>\u7d2b\u5916\u7dda\u7167\u5c04\u5f8c\u306eRNA\u5408\u6210\u56de\u5fa9\uff08RRS\uff09\u304c\u4f4e\u4e0b<\/strong>\u3059\u308b\u4e00\u65b9\u3001\u30b2\u30ce\u30e0\u5168\u4f53\u306e\u9664\u53bb\u4fee\u5fa9\uff08GG-NER\uff09\u306f\u4fdd\u305f\u308c\u308b\u305f\u3081\u3001<strong>\u8272\u7d20\u6027\u4e7e\u76ae\u75c7\u3068\u7570\u306a\u308a\u76ae\u819a\u304c\u3093\u306e\u5897\u52a0\u306f\u307f\u3089\u308c\u306a\u3044<\/strong>\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u30b3\u30b1\u30a4\u30f3\u75c7\u5019\u7fa4\u306f\u81e8\u5e8a\u7684\u306b<strong>I\u578b\uff08\u5178\u578b\u30fb\u4e2d\u7b49\u75c7\uff09\u3001II\u578b\uff08\u5148\u5929\u6027\u30fb\u91cd\u75c7\u3001COFS\u75c7\u5019\u7fa4\u3068\u9023\u7d9a\uff09\u3001III\u578b\uff08\u9045\u767a\u30fb\u8efd\u75c7\uff09<\/strong>\u306b\u5206\u3051\u3089\u308c\u308b\u3002<strong>\u539f\u56e0\u306e\u591a\u304f\u306fERCC6\uff08B\u578b\uff09\u3067\u3001ERCC8\uff08A\u578b\uff09\u306f\u5c11\u6570\u6d3e<\/strong>\u3067\u3042\u308b\u3002<strong>A\u578b\u3068B\u578b\u306e\u81e8\u5e8a\u50cf\u306f\u5927\u304d\u304f\u91cd\u306a\u308b\u304c\u3001\u6700\u91cd\u75c7\u306eII\u578b\u3084COFS\u75c7\u5019\u7fa4\u306fB\u578b\u306b\u591a\u304f\u3001A\u578b\u306fI\u578b\u306e\u7d4c\u904e\u3092\u3068\u308b\u4f8b\u304c\u591a\u3044<\/strong>\u3068\u3055\u308c\u308b\u3002\u307e\u305f\u3001<strong>ERCC8\u306e\u4e00\u90e8\u306e\u5909\u7570\u3067\u306f\u3001\u5149\u7dda\u904e\u654f\u306e\u307f\u3092\u5448\u3057\u6210\u9577\u969c\u5bb3\u3084\u795e\u7d4c\u5909\u6027\u3092\u4f34\u308f\u306a\u3044\u7d2b\u5916\u7dda\u9ad8\u611f\u53d7\u6027\u75c7\u5019\u7fa42\u578b\uff08UVSS2\uff09<\/strong>\u3068\u306a\u308a\u3001\u540c\u4e00\u907a\u4f1d\u5b50\u5185\u3067\u3082\u8868\u73fe\u578b\u306e\u5e45\u304c\u5927\u304d\u3044\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u30b3\u30b1\u30a4\u30f3\u75c7\u5019\u7fa4B\u578b\uff08<em>ERCC6<\/em>\uff09\u3001\u8272\u7d20\u6027\u4e7e\u76ae\u75c7\u30fb\u30b3\u30b1\u30a4\u30f3\u75c7\u5019\u7fa4\u8907\u5408\u578b\uff08<em>ERCC2<\/em>\u3001<em>ERCC3<\/em>\u3001<em>ERCC5<\/em> \u306a\u3069\uff09\u3001\u786b\u9ec4\u6b20\u4e4f\u6027\u6bdb\u9aea\u767a\u80b2\u7570\u5e38\u75c7\u3001\u30da\u30ea\u30c4\u30a7\u30a6\u30b9\u30fb\u30e1\u30eb\u30c4\u30d0\u30c3\u30cf\u30fc\u75c5\u306a\u3069\u306e\u767d\u8cea\u5f62\u6210\u4e0d\u5168\u75c7\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u304c\u6319\u304c\u308b\u3002<strong>A\u578b\u30fbB\u578b\u306f\u3044\u305a\u308c\u3082\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u3067\u6b21\u5b50\u518d\u767a\u7387\u306f25%\u3067\u3042\u308b\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u7740\u5e8a\u524d\u691c\u67fb\u3067\u8abf\u3079\u308b\u3079\u304d\u5909\u5316\u304c\u660e\u78ba\u306b\u306a\u308b\u3002<\/strong>\u81e8\u5e8a\u4e0a\u306f\u3001<strong>\u30e1\u30c8\u30ed\u30cb\u30c0\u30be\u30fc\u30eb\u6295\u4e0e\u5f8c\u306e\u6025\u6027\u809d\u4e0d\u5168\u306e\u5831\u544a<\/strong>\u3084\u3001\u5c0f\u984e\u30fb\u958b\u53e3\u5236\u9650\u306b\u3088\u308b<strong>\u9ebb\u9154\u6642\u306e\u6c17\u9053\u78ba\u4fdd\u56f0\u96e3<\/strong>\u3078\u306e\u6ce8\u610f\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u305f\u3081\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/strong>\u7537\u306e\u5b50\u30fb\u5973\u306e\u5b50\u306b\u3088\u308b\u9055\u3044\u306f\u3042\u308a\u307e\u305b\u3093\u3002<strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308c\u3070\u3001\u6b21\u306e\u598a\u5a20\u3067\u540c\u3058\u5909\u5316\u3092\u8abf\u3079\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u598a\u5a20\u4e2d\u306b\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u3053\u306e\u578b\u306e\u591a\u304f\u306f\u751f\u307e\u308c\u305f\u3042\u3068\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u305f\u3081\u3001\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u307b\u3068\u3093\u3069\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u3054\u5bb6\u65cf\u3067\u3059\u3067\u306b\u539f\u56e0\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u3084\u3001\u3054\u592b\u5a66\u304c\u30ad\u30e3\u30ea\u30a2\u3068\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u306a\u691c\u67fb\u3067\u8abf\u3079\u308b\u3053\u3068\u3092\u691c\u8a0e\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. A\u578b\u3068B\u578b\u3067\u306f\u4f55\u304c\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u304c\u9055\u3044\u307e\u3059\uff08A\u578b\u306f ERCC8\u3001B\u578b\u306f ERCC6\uff09\u3002<\/strong>\u3069\u3061\u3089\u3082\u540c\u3058\u4fee\u5fa9\u306e\u3057\u304f\u307f\u306b\u304b\u304b\u308f\u308b\u305f\u3081\u3001\u75c7\u72b6\u306f\u3088\u304f\u4f3c\u3066\u3044\u3066\u3001\u898b\u305f\u76ee\u3060\u3051\u3067\u306f\u533a\u5225\u3067\u304d\u306a\u3044\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002<strong>A\u578b\u306f\u5e7c\u5150\u671f\u306b\u6c17\u3065\u304b\u308c\u3066\u3086\u3063\u304f\u308a\u9032\u3080\u5178\u578b\u7684\u306a\u7d4c\u904e\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u304c\u3001\u304a\u4e00\u4eba\u304a\u3072\u3068\u308a\u3067\u91cd\u3055\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u65e5\u5e38\u751f\u6d3b\u3067\u6c17\u3092\u3064\u3051\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u65e5\u5149\uff08\u7d2b\u5916\u7dda\uff09\u3092\u3067\u304d\u308b\u3060\u3051\u907f\u3051\u308b\u3053\u3068\u3001\u6804\u990a\u3092\u3057\u3063\u304b\u308a\u3068\u308b\u3053\u3068\u3001\u76ee\u30fb\u8033\u30fb\u6b6f\u30fb\u8840\u5727\u306a\u3069\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong>\u307e\u305f\u3001<strong>\u30e1\u30c8\u30ed\u30cb\u30c0\u30be\u30fc\u30eb\u3068\u3044\u3046\u6297\u83cc\u85ac\u306f\u91cd\u3044\u809d\u969c\u5bb3\u306e\u5831\u544a\u304c\u3042\u308b\u305f\u3081\u907f\u3051\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u3066\u3044\u307e\u3059<\/strong>\u3002\u6b6f\u79d1\u3084\u624b\u8853\u3001\u307b\u304b\u306e\u75c5\u9662\u306b\u304b\u304b\u308b\u3068\u304d\u306f\u3001\u5fc5\u305a\u75c5\u540d\u3092\u304a\u4f1d\u3048\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306f\u4f55\u3092\u76f8\u8ac7\u3067\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u8a3a\u65ad\u306e\u610f\u5473\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u306e\u9078\u629e\u80a2\u3001\u3054\u304d\u3087\u3046\u3060\u3044\u3084\u3054\u89aa\u65cf\u3078\u306e\u5f71\u97ff\u306a\u3069\u3092\u3054\u76f8\u8ac7\u3044\u305f\u3060\u3051\u307e\u3059\u3002\u5224\u65ad\u3092\u6025\u304c\u305b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Laugel V. Cockayne Syndrome. In: Adam MP, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle; 1993-.<\/li>\n\n\n\n<li>OMIM #216400 Cockayne syndrome A; CSA. Online Mendelian Inheritance in Man.<\/li>\n\n\n\n<li>Henning KA, Li L, Iyer N, et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. <em>Cell<\/em>. 1995;82(4):555-564.<\/li>\n\n\n\n<li>Laugel V, Dalloz C, Durand M, et al. Mutation update for the CSB\/ERCC6 and CSA\/ERCC8 genes involved in Cockayne syndrome. <em>Hum Mutat<\/em>. 2010;31(2):113-126.<\/li>\n\n\n\n<li>Natale V. A comprehensive description of the severity groups in Cockayne syndrome. <em>Am J Med Genet A<\/em>. 2011;155A(5):1081-1095.<\/li>\n\n\n\n<li>Wilson BT, Stark Z, Sutton RE, et al. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. <em>Genet Med<\/em>. 2016;18(5):483-493.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-147860","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147860","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":0,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/147860\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147860"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}