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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u307e\u3059\u3002\u3053\u306e\u578b\u3067\u306f\u3001<strong>CRPPA<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u3088\u304f\u4f3c\u305f\u75c7\u72b6\u3092\u8d77\u3053\u3059\u907a\u4f1d\u5b50\u306f\u5341\u6570\u7a2e\u985e\u3042\u308a\u3001\u75c7\u72b6\u3060\u3051\u3067\u306f\u533a\u5225\u3067\u304d\u307e\u305b\u3093\u3002\u6b21\u306e\u304a\u5b50\u3055\u307e\u306e\u898b\u901a\u3057\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3059\u308b\u305f\u3081\u306b\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u306b\u306f\u5927\u304d\u306a\u610f\u5473\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u3053\u306e\u75c5\u6c17\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u3092\u3084\u308f\u3089\u3052\u3001\u304a\u5b50\u3055\u307e\u304c\u5c11\u3057\u3067\u3082\u697d\u306b\u904e\u3054\u305b\u308b\u3088\u3046\u306b\u3059\u308b<strong>\u5bfe\u75c7\u7642\u6cd5\u3068\u652f\u63f4<\/strong>\u3067\u3059\u3002\u8db3\u308a\u306a\u3044\u6750\u6599\u3092\u88dc\u3046\u6cbb\u7642\u306e\u7814\u7a76\u3082\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u307e\u3060\u7814\u7a76\u6bb5\u968e\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6c34\u982d\u75c7\u3078\u306e\u5bfe\u5fdc<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u3001\u8133\u306b\u305f\u307e\u3063\u305f\u6db2\u3092\u9003\u304c\u3059\u624b\u8853\uff08\u30b7\u30e3\u30f3\u30c8\u8853\uff09\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u3068\u6804\u990a\u306e\u652f\u63f4<\/strong>\uff1a\u75f0\u306e\u5438\u5f15\u3001\u547c\u5438\u306e\u88dc\u52a9\u3001\u30c1\u30e5\u30fc\u30d6\u3067\u306e\u6804\u990a\u3084\u80c3\u308d\u3046\u306a\u3069\u3092\u3001\u3054\u5bb6\u65cf\u306e\u610f\u5411\u3092\u5c0a\u91cd\u3057\u3066\u6c7a\u3081\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3051\u3044\u308c\u3093\u306e\u6cbb\u7642<\/strong>\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac\u3092\u4f7f\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u3067\u306e\u7ba1\u7406\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u95a2\u7bc0\u304c\u56fa\u307e\u308b\u306e\u3092\u9632\u304e\u3001\u697d\u306a\u59ff\u52e2\u3092\u4fdd\u3066\u308b\u3088\u3046\u652f\u63f4\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u7684\u652f\u63f4\u3068\u3001\u5728\u5b85\u533b\u7642\u30fb\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u306e\u8abf\u6574<\/strong>\uff1a\u7de9\u548c\u30b1\u30a2\u3084\u30b0\u30ea\u30fc\u30d5\u30b1\u30a2\u3092\u542b\u3081\u3001\u7d99\u7d9a\u7684\u306a\u652f\u3048\u304c\u5fc5\u8981\u3067\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>CRPPA<\/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\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>CRPPA<\/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<strong>\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\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>CRPPA<\/strong>\uff08CDP-L-ribitol pyrophosphorylase A\u3001\u65e7\u540d ISPD\uff09\u306f\u3001<strong>\u30ea\u30d3\u30c8\u30fc\u30eb-5-\u30ea\u30f3\u9178\u3068 CTP \u304b\u3089 CDP-\u30ea\u30d3\u30c8\u30fc\u30eb\u3092\u5408\u6210\u3059\u308b\u30b7\u30c1\u30b8\u30ea\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc<\/strong>\u3067\u3042\u308b\u3002CDP-\u30ea\u30d3\u30c8\u30fc\u30eb\u306f\u3001<em>FKTN<\/em> \u3068 <em>FKRP<\/em> \u304c\u03b1-\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30f3\u306e\u30b3\u30a2M3\u7cd6\u9396\u306b<strong>\u30bf\u30f3\u30c7\u30e0\u306a\u30ea\u30d3\u30c8\u30fc\u30eb-5-\u30ea\u30f3\u9178\u69cb\u9020<\/strong>\u3092\u4ed8\u52a0\u3059\u308b\u969b\u306e\u4f9b\u4e0e\u57fa\u8cea\u3068\u306a\u308b\u3002\u305d\u306e\u4e0b\u6d41\u3067 LARGE1 \u304c\u30e9\u30df\u30cb\u30f3\u7d50\u5408\u80fd\u3092\u62c5\u3046\u30de\u30c8\u30ea\u30b0\u30ea\u30ab\u30f3\u3092\u4f38\u9577\u3059\u308b\u3002CRPPA \u304c\u6b20\u640d\u3059\u308b\u3068\u3053\u306e\u7d4c\u8def\u304c\u4e0a\u6d41\u3067\u9014\u7d76\u3048\u3001<strong>\u03b1-\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30f3\u306e\u6a5f\u80fd\u7684\u306a\u7cd6\u9396\u4fee\u98fe\u304c\u4f4e\u4e0b<\/strong>\u3059\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">2012\u5e74\u306b2\u3064\u306e\u30b0\u30eb\u30fc\u30d7\u304c\u72ec\u7acb\u3057\u3066\u3001<strong>\u672c\u907a\u4f1d\u5b50\u3092\u30a6\u30a9\u30fc\u30ab\u30fc\u30fb\u30ef\u30fc\u30eb\u30d6\u30eb\u30b0\u75c7\u5019\u7fa4\uff08WWS\uff09\u306e\u539f\u56e0\u3068\u3057\u3066\u540c\u5b9a<\/strong>\u3057\u305f\u3002\u305d\u306e\u5f8c\u306e\u89e3\u6790\u3067\u3001<strong>\u6700\u91cd\u75c7\u306eWWS\u304b\u3089\u3001\u7b4b\u30fb\u773c\u30fb\u8133\u75c5\uff08MEB\uff09\u306b\u8fd1\u3044\u8868\u73fe\u578b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u308f\u306a\u3044\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08MDDGC7\uff09\u307e\u3067\u3001\u9023\u7d9a\u3057\u305f\u8868\u73fe\u578b\u306e\u5e45<\/strong>\u3092\u793a\u3059\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u3002<strong>\u4e21\u30a2\u30ec\u30eb\u3068\u3082\u6a5f\u80fd\u55aa\u5931\u578b\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u3001\u5927\u304d\u306a\u6b20\u5931\u306a\u3069\uff09\u306e\u5834\u5408\u306fA\u578b\u3092\u3068\u308a\u3084\u3059\u304f\u3001\u6b8b\u5b58\u6d3b\u6027\u306e\u3042\u308b\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3092\u542b\u3080\u5834\u5408\u306f\u8efd\u75c7\u578b\u306b\u306a\u308b\u50be\u5411<\/strong>\u304c\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u306b\u306f\u3001\u307b\u304b\u306e\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\u539f\u56e0\u907a\u4f1d\u5b50\uff08<em>POMT1<\/em>\u3001<em>POMT2<\/em>\u3001<em>POMGNT1<\/em>\u3001<em>FKTN<\/em>\u3001<em>FKRP<\/em>\u3001<em>LARGE1<\/em>\u3001<em>B3GALNT2<\/em> \u306a\u3069\uff09\u304c\u6319\u304c\u308b\u3002<strong>\u65e5\u672c\u3067\u306f <em>FKTN<\/em> \u306e\u5275\u59cb\u8005\u5909\u7570\uff083\u2032\u975e\u7ffb\u8a33\u9818\u57df\u3078\u306e\u30ec\u30c8\u30ed\u30c8\u30e9\u30f3\u30b9\u30dd\u30be\u30f3\u633f\u5165\uff09\u306b\u3088\u308b\u798f\u5c71\u578b\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u304c\u6700\u3082\u591a\u3044<\/strong>\u305f\u3081\u3001\u672c\u578b\u3068\u306e\u533a\u5225\u306b\u306f\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u6b20\u304b\u305b\u306a\u3044\u3002\u753b\u50cf\u4e0a\u306f\u3001<em>TUBA1A<\/em> \u306a\u3069\u306e\u30c1\u30e5\u30fc\u30d6\u30ea\u30f3\u7570\u5e38\u75c7\u3001<em>ADGRG1<\/em>\uff08<em>GPR56<\/em>\uff09\u7570\u5e38\u306b\u3088\u308b\u591a\u5c0f\u8133\u56de\u3001\u5148\u5929\u611f\u67d3\u306b\u3088\u308b\u6c34\u982d\u75c7\u3082\u9451\u5225\u3068\u306a\u308b\u3002<strong>\u907a\u4f1d\u5f62\u5f0f\u3084\u6b21\u5b50\u518d\u767a\u7387\u304c\u305d\u308c\u305e\u308c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u76f4\u7d50\u3059\u308b\u3002<\/strong><\/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>2\u5206\u306e1\u306e\u78ba\u7387\u3067\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u306b\u306a\u308a\u30014\u5206\u306e1\u306e\u78ba\u7387\u3067\u5909\u5316\u3092\u53d7\u3051\u7d99\u304e\u307e\u305b\u3093\u3002<strong>\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u78ba\u5b9a\u3057\u3066\u3044\u308c\u3070\u3001\u6b21\u306e\u598a\u5a20\u3067\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\u691c\u67fb\u3092\u691c\u8a0e\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>\u598a\u5a20\u4e2d\u671f\u4ee5\u964d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u3001\u8133\u5ba4\u306e\u62e1\u5927\uff08\u6c34\u982d\u75c7\uff09\u3001\u5c0f\u8133\u306e\u7570\u5e38\u3001\u8133\u7624\u306a\u3069\u304b\u3089\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u7b4b\u8089\u306e\u75c5\u6c17\u305d\u306e\u3082\u306e\u306f\u8d85\u97f3\u6ce2\u3067\u306f\u5206\u304b\u308a\u307e\u305b\u3093\u3002\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u8a3a\u65ad\u304c\u3064\u3044\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u598a\u5a20\u65e9\u671f\u304b\u3089\u306e\u907a\u4f1d\u5b66\u7684\u691c\u67fb\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. \u798f\u5c71\u578b\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3068\u306f\u9055\u3046\u75c5\u6c17\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>\u3069\u3061\u3089\u3082\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30f3\u306b\u7cd6\u306e\u9396\u304c\u3046\u307e\u304f\u4ed8\u304b\u306a\u3044\u3001\u540c\u3058\u4ef2\u9593\u306e\u75c5\u6c17\u3067\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u798f\u5c71\u578b\u306f <strong>FKTN<\/strong> \u907a\u4f1d\u5b50\u3001\u3053\u306e\u578b\u306f <strong>CRPPA<\/strong> \u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3059\u3002\u75c7\u72b6\u304c\u4f3c\u3066\u3044\u3066\u3082\u3001\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308c\u3070\u533a\u5225\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u8efd\u3044\u75c5\u6c17\u3082\u3042\u308b\u3068\u805e\u304d\u307e\u3057\u305f\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u306f\u3044\u3002<strong>CRPPA \u907a\u4f1d\u5b50\u306e\u5909\u5316\u306f\u3001\u6b8b\u3063\u3066\u3044\u308b\u306f\u305f\u3089\u304d\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/strong>\u8efd\u3044\u578b\u3067\u306f\u8133\u3084\u773c\u306e\u7570\u5e38\u306f\u306a\u304f\u3001\u6210\u9577\u3057\u3066\u304b\u3089\u6b69\u304d\u306b\u304f\u3055\u3084\u7b4b\u529b\u306e\u4f4e\u4e0b\u3067\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<strong>\u3053\u306eA\u578b7\u306f\u3001\u305d\u306e\u306a\u304b\u3067\u3082\u3063\u3068\u3082\u91cd\u3044\u578b\u3067\u3059\u3002<\/strong><\/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>Willer T, Lee H, Lommel M, et al. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. <em>Nat Genet<\/em>. 2012;44(5):575-580.<\/li>\n\n\n\n<li>Roscioli T, Kamsteeg EJ, Buysse K, et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of \u03b1-dystroglycan. <em>Nat Genet<\/em>. 2012;44(5):581-585.<\/li>\n\n\n\n<li>Cirak S, Foley AR, Herrmann R, et al. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. <em>Brain<\/em>. 2013;136(Pt 1):269-281.<\/li>\n\n\n\n<li>Kanagawa M, Kobayashi K, Tajiri M, et al. Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy. <em>Cell Rep<\/em>. 2016;14(9):2209-2223.<\/li>\n\n\n\n<li>OMIM #614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; MDDGA7. Online Mendelian Inheritance in Man.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-158717","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\/158717","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\/158717\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=158717"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}