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class=\"wp-block-paragraph\">\u540c\u3058 TJP2 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u3082\u3001<strong>\u8840\u6db2\u4e2d\u306e\u80c6\u6c41\u9178\u304c\u9ad8\u304f\u306a\u308b\u3060\u3051\u306e\u6bd4\u8f03\u7684\u8efd\u3044\u75c5\u6c17\uff08\u5bb6\u65cf\u6027\u9ad8\u80c6\u6c41\u9178\u8840\u75c7\uff09\u3084\u3001\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3057\u3066\u8d77\u3053\u308b\u96e3\u8074\uff08\u9855\u6027\u907a\u4f1d\uff09<\/strong>\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<strong>\u3053\u306e4\u578b\u306f\u3001TJP2 \u306e\u306f\u305f\u3089\u304d\u304c\u307b\u307c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u3082\u3063\u3068\u3082\u91cd\u3044\u809d\u81d3\u306e\u75c5\u6c17\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p class=\"wp-block-paragraph\"><strong>TJP2<\/strong> 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class=\"wp-block-paragraph\"><strong>\u73fe\u6642\u70b9\u3067\u3001\u907a\u4f1d\u5b50\u306e\u5909\u5316\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306f\u3001\u80c6\u6c41\u306e\u6d41\u308c\u3092\u52a9\u3051\u3001\u304b\u3086\u307f\u3084\u6804\u990a\u4e0d\u8db3\u3092\u3084\u308f\u3089\u3052\u3001\u809d\u81d3\u306e\u72b6\u614b\u3092\u898b\u5b88\u308b\u3053\u3068\u304c\u4e2d\u5fc3\u3067\u3059\u3002<strong>\u809d\u786c\u5909\u3084\u809d\u4e0d\u5168\u306b\u9032\u3093\u3060\u5834\u5408\u306f\u3001\u809d\u79fb\u690d\u304c\u3082\u3063\u3068\u3082\u6709\u52b9\u306a\u6cbb\u7642\u3068\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80c6\u6c41\u306e\u6d41\u308c\u3092\u52a9\u3051\u308b\u85ac<\/strong>\uff1a\u30a6\u30eb\u30bd\u30c7\u30aa\u30ad\u30b7\u30b3\u30fc\u30eb\u9178\u306a\u3069\u304c\u4f7f\u308f\u308c\u307e\u3059\u304c\u3001\u52b9\u679c\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u304b\u3086\u307f\u3092\u6291\u3048\u308b\u6cbb\u7642<\/strong>\uff1a\u8907\u6570\u306e\u85ac\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002\u8178\u304b\u3089\u306e\u80c6\u6c41\u9178\u306e\u518d\u5438\u53ce\u3092\u6291\u3048\u308b\u65b0\u3057\u3044\u85ac\u3082\u4f7f\u308f\u308c\u59cb\u3081\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u578b\u3067\u306e\u52b9\u679c\u306f\u307e\u3060\u5341\u5206\u306b\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7642\u6cd5<\/strong>\uff1a\u5438\u53ce\u3055\u308c\u3084\u3059\u3044\u8102\u80aa\uff08\u4e2d\u9396\u8102\u80aa\u9178\uff09\u3092\u542b\u3080\u30df\u30eb\u30af\u3084\u3001\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\u306e\u88dc\u5145\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u809d\u81d3\u304c\u3093\u306e\u5b9a\u671f\u7684\u306a\u30c1\u30a7\u30c3\u30af<\/strong>\uff1a\u8840\u6db2\u691c\u67fb\uff08AFP \u306a\u3069\uff09\u3068\u753b\u50cf\u691c\u67fb\u3092\u5b9a\u671f\u7684\u306b\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u809d\u79fb\u690d<\/strong>\uff1a\u809d\u4e0d\u5168\u3084\u304c\u3093\u306e\u5fc3\u914d\u304c\u9ad8\u307e\u3063\u305f\u3068\u304d\u306b\u691c\u8a0e\u3057\u307e\u3059\u3002\u79fb\u690d\u5f8c\u3082\u9577\u671f\u306e\u901a\u9662\u304c\u5fc5\u8981\u3067\u3059<\/li>\n\n\n\n<li><strong>\u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4<\/strong>\uff1a\u304b\u3086\u307f\u306b\u3088\u308b\u7761\u7720\u4e0d\u8db3\u306f\u5bb6\u65cf\u5168\u4f53\u306e\u8ca0\u62c5\u306b\u306a\u308b\u305f\u3081\u3001\u533b\u7642\u30fb\u798f\u7949\u306e\u652f\u63f4\u3092\u6d3b\u7528\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>TJP2<\/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>TJP2<\/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>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\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>TJP2<\/strong> \u306f MAGUK \u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b<strong>\u30bf\u30a4\u30c8\u30b8\u30e3\u30f3\u30af\u30b7\u30e7\u30f3\u88cf\u6253\u3061\u305f\u3093\u3071\u304f ZO-2<\/strong> \u3092\u30b3\u30fc\u30c9\u3057\u3001\u30af\u30ed\u30fc\u30c7\u30a3\u30f3\u7fa4\u3092\u30a2\u30af\u30c1\u30f3\u7d30\u80de\u9aa8\u683c\u3078\u9023\u7d50\u3059\u308b\u8db3\u5834\u3068\u3057\u3066\u6a5f\u80fd\u3059\u308b\u3002<strong>\u4e21\u30a2\u30ec\u30eb\u6027\u306e\u6a5f\u80fd\u55aa\u5931\u5909\u7570\uff08\u30ca\u30f3\u30bb\u30f3\u30b9\u30fb\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u7b49\uff09\u3067\u306f ZO-2 \u304c\u6b20\u5931\u3057\u3001\u809d\u7d30\u80de\u9593\u30bf\u30a4\u30c8\u30b8\u30e3\u30f3\u30af\u30b7\u30e7\u30f3\u3078\u306e\u30af\u30ed\u30fc\u30c7\u30a3\u30f3-1\u306e\u5c40\u5728\u304c\u5931\u308f\u308c\u308b<\/strong>\u3002\u305d\u306e\u7d50\u679c\u3001\u508d\u7d30\u80de\u7d4c\u8def\u306e\u30d0\u30ea\u30a2\u304c\u7834\u7dbb\u3057\u3066\u80c6\u6c41\u6210\u5206\u304c\u809d\u5b9f\u8cea\u3078\u9006\u6d41\u3057\u3001<strong>\u4f4eGGT\u578b\u306e\u9032\u884c\u6027\u80c6\u6c41\u3046\u3063\u6ede<\/strong>\u3092\u5448\u3059\u308b\uff08Sambrotta \u3089\u30012014\u5e74\uff09\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u672c\u578b\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u3001\u4e73\u5150\u671f\u767a\u75c7\u30fb\u65e9\u671f\u306e\u809d\u786c\u5909\u9032\u5c55\u3068\u3001\u5c0f\u5150\u671f\u306e\u809d\u7d30\u80de\u304c\u3093\u767a\u751f\u3067\u3042\u308b<\/strong>\u3002\u4e00\u90e8\u75c7\u4f8b\u3067\u306f\u547c\u5438\u5668\u30fb\u795e\u7d4c\u7cfb\u306a\u3069\u809d\u5916\u75c7\u72b6\u3082\u8a18\u8f09\u3055\u308c\u308b\u3002<strong>\u4e00\u65b9\u3001\u540c\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u30d0\u30ea\u30a2\u30f3\u30c8\u306f\u8868\u73fe\u578b\u306e\u5e45\u304c\u5e83\u304f\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08\u30a2\u30fc\u30df\u30c3\u30b7\u30e5\u96c6\u56e3\u306e p.Val48Ala \u306a\u3069\uff09\u306f BAAT \u5909\u7570\u3068\u4f75\u305b\u3066\u5bb6\u65cf\u6027\u9ad8\u80c6\u6c41\u9178\u8840\u75c7\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3001TJP2 \u3092\u542b\u3080\u9818\u57df\u306e\u91cd\u8907\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306e\u975e\u75c7\u5019\u7fa4\u6027\u96e3\u8074\uff08DFNA51\uff09\u3092\u8d77\u3053\u3059<\/strong>\u3002PFIC4 \u3068\u3057\u3066\u6271\u3046\u306e\u306f\u4e21\u30a2\u30ec\u30eb\u6027\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308b\u91cd\u75c7\u809d\u75c5\u5909\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u4f4eGGT\u578b\u306e PFIC1\uff08<em>ATP8B1<\/em>\uff09\u3001PFIC2\uff08<em>ABCB11<\/em>\uff09\u3001PFIC5\uff08<em>NR1H4<\/em>\uff09\u3001PFIC6\uff08<em>MYO5B<\/em>\uff09\u3001\u80c6\u6c41\u9178\u5408\u6210\u969c\u5bb3\u3001\u9ad8GGT\u578b\u306e PFIC3\uff08<em>ABCB4<\/em>\uff09\u3001\u30a2\u30e9\u30b8\u30fc\u30eb\u75c7\u5019\u7fa4\uff08<em>JAG1<\/em>\u3001\u9855\u6027\uff09\u3001\u80c6\u9053\u9589\u9396\u75c7\u304c\u6319\u304c\u308b\u3002<strong>PFIC1 \u306f\u809d\u79fb\u690d\u5f8c\u306b\u4e0b\u75e2\u3084\u8102\u80aa\u809d\u304c\u554f\u984c\u3068\u306a\u308a\u3001PFIC2 \u306f\u79fb\u690d\u5f8c\u306b\u6297BSEP\u6297\u4f53\u306b\u3088\u308b\u518d\u767a\u304c\u3042\u308a\u3046\u308b\u306a\u3069\u3001\u75c5\u578b\u3054\u3068\u306b\u7ba1\u7406\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u8a3a\u65ad\u306f\u6cbb\u7642\u65b9\u91dd\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u53cc\u65b9\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>\u30ad\u30e3\u30ea\u30a2\u306e\u304a\u5b50\u3055\u307e\u306f\u57fa\u672c\u7684\u306b\u75c7\u72b6\u304c\u3042\u308a\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\u3059\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\u75c5\u6c17\u306f\u598a\u5a20\u4e2d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u307b\u3068\u3093\u3069\u7570\u5e38\u304c\u898b\u3089\u308c\u305a\u3001\u591a\u304f\u306f\u751f\u307e\u308c\u3066\u304b\u3089\u9ec4\u75b8\u3084\u304b\u3086\u307f\u3067\u6c17\u3065\u304b\u308c\u307e\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u598a\u5a20\u4e2d\u306b\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. 1\u578b\u30842\u578b\u3068\u306f\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. \u75c7\u72b6\u306f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001<strong>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u3068\u3057\u304f\u307f\u304c\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>1\u301c3\u578b\u306f\u80c6\u6c41\u306e\u6210\u5206\u3092\u904b\u3076\u30dd\u30f3\u30d7\u306e\u7570\u5e38\u3067\u3059\u304c\u3001<strong>4\u578b\u306f\u809d\u81d3\u306e\u7d30\u80de\u3069\u3046\u3057\u306e\u3059\u304d\u9593\u3092\u3075\u3055\u3050\u90e8\u5206\u306e\u7570\u5e38\u3067\u3059\u3002<\/strong>4\u578b\u3067\u306f\u5b50\u3069\u3082\u306e\u3046\u3061\u306b\u809d\u81d3\u304c\u3093\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u691c\u67fb\u304c\u3088\u308a\u5927\u5207\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u809d\u79fb\u690d\u3092\u3059\u308c\u3070\u5143\u6c17\u306b\u66ae\u3089\u305b\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u809d\u79fb\u690d\u306b\u3088\u308a\u9ec4\u75b8\u3084\u304b\u3086\u307f\u304c\u6539\u5584\u3057\u3001\u6210\u9577\u304c\u8ffd\u3044\u3064\u304f\u304a\u5b50\u3055\u307e\u3082\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u79fb\u690d\u5f8c\u306f\u62d2\u7d76\u53cd\u5fdc\u3092\u9632\u3050\u85ac\u3092\u7d9a\u3051\u308b\u5fc5\u8981\u304c\u3042\u308a\u3001\u5408\u4f75\u75c7\u306e\u53ef\u80fd\u6027\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u578b\u306f\u5831\u544a\u6570\u304c\u5c11\u306a\u304f\u3001\u9577\u671f\u306e\u7d4c\u904e\u306b\u3064\u3044\u3066\u306f\u307e\u3060\u308f\u304b\u3063\u3066\u3044\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u4e3b\u6cbb\u533b\u3068\u3088\u304f\u76f8\u8ac7\u3057\u3066\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>Sambrotta M, Strautnieks S, Papouli E, et al. Mutations in TJP2 cause progressive cholestatic liver disease. <em>Nat Genet<\/em>. 2014;46(4):326-328.<\/li>\n\n\n\n<li>Carlton VE, Harris BZ, Puffenberger EG, et al. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. <em>Nat Genet<\/em>. 2003;34(1):91-96.<\/li>\n\n\n\n<li>Bull LN, Thompson RJ. Progressive familial intrahepatic cholestasis. <em>Clin Liver Dis<\/em>. 2018;22(4):657-669.<\/li>\n\n\n\n<li>Amirneni S, Haep N, Gad MA, et al. Molecular overview of progressive familial intrahepatic cholestasis. <em>World J Gastroenterol<\/em>. 2020;26(47):7470-7484.<\/li>\n\n\n\n<li>OMIM #615878 Cholestasis, progressive familial intrahepatic, 4. 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-147475","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\/147475","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\/147475\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147475"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}