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class=\"wp-block-paragraph\">\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001CODAS\u75c7\u5019\u7fa4\u3067\u306f <strong>LONP1<\/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>\u767d\u5185\u969c\u3084\u9aa8\u306e\u7570\u5e38\u306f\u307b\u304b\u306e\u591a\u304f\u306e\u75c5\u6c17\u3067\u3082\u8d77\u3053\u308b\u305f\u3081\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u3067\u3001\u4eca\u5f8c\u306e\u898b\u901a\u3057\u3084\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u3092\u6b63\u3057\u304f\u304a\u4f1d\u3048\u3067\u304d\u308b\u3088\u3046\u306b\u306a\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\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u6cbb\u7642\u306f\u3001<strong>\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u652f\u63f4<\/strong>\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3066\u3001\u9577\u304f\u898b\u5b88\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u79d1<\/strong>\uff1a\u767d\u5185\u969c\u306e\u624b\u8853\u3068\u3001\u305d\u306e\u5f8c\u306e\u8996\u529b\u306e\u767a\u9054\u3092\u4fc3\u3059\u6cbb\u7642\uff08\u773c\u93e1\u30fb\u30b3\u30f3\u30bf\u30af\u30c8\u30ec\u30f3\u30ba\u306a\u3069\uff09\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u547c\u5438\u306e\u7ba1\u7406<\/strong>\uff1a\u5589\u982d\u8edf\u5316\u75c7\u30fb\u6c17\u7ba1\u8edf\u5316\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u7a0b\u5ea6\u306b\u5fdc\u3058\u3066\u547c\u5438\u306e\u88dc\u52a9\u3084\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1<\/strong>\uff1a\u80a1\u95a2\u7bc0\u306e\u5f62\u6210\u4e0d\u5168\u3084\u5074\u5f2f\u306e\u7d4c\u904e\u3092\u307f\u3066\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u88c5\u5177\u3084\u624b\u8853\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1<\/strong>\uff1a\u6b6f\u306e\u5f62\u3084\u751f\u3048\u65b9\u306e\u7570\u5e38\u306b\u5bfe\u3057\u3066\u3001\u5b9a\u671f\u7684\u306a\u7ba1\u7406\u3068\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8033\u9f3b\u79d1<\/strong>\uff1a\u8074\u529b\u691c\u67fb\u3092\u884c\u3044\u3001\u96e3\u8074\u304c\u3042\u308c\u3070\u88dc\u8074\u5668\u306a\u3069\u3067\u652f\u63f4\u3057\u307e\u3059<\/li>\n\n\n\n<li><strong>\u767a\u9054\u306e\u652f\u63f4<\/strong>\uff1a\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u3084\u3001\u7642\u80b2\u30fb\u6559\u80b2\u9762\u3067\u306e\u652f\u63f4\u3092\u884c\u3044\u307e\u3059<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u8a3a\u65ad\u306e\u610f\u5473\u3001\u898b\u901a\u3057\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306b\u3064\u3044\u3066\u3054\u8aac\u660e\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>LONP1<\/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>LONP1<\/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\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\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>LONP1<\/strong> \u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u306b\u5c40\u5728\u3059\u308b<strong>ATP\u4f9d\u5b58\u6027AAA+\u30d7\u30ed\u30c6\u30a2\u30fc\u30bc\uff08Lon\u30d7\u30ed\u30c6\u30a2\u30fc\u30bc\uff09<\/strong>\u3092\u30b3\u30fc\u30c9\u3057\u3001\u30db\u30e2\u516d\u91cf\u4f53\u3092\u5f62\u6210\u3057\u3066\u9178\u5316\u30fb\u5909\u6027\u3057\u305f\u30de\u30c8\u30ea\u30c3\u30af\u30b9\u305f\u3093\u3071\u304f\u8cea\u306e\u5206\u89e3\u3001\u30b7\u30e3\u30da\u30ed\u30f3\u6a5f\u80fd\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2DNA\u7d50\u5408\u305f\u3093\u3071\u304f\u8cea\uff08TFAM\u306a\u3069\uff09\u306e\u91cf\u7684\u8abf\u7bc0\u3092\u62c5\u3046\u3002<strong>\u6a5f\u80fd\u4f4e\u4e0b\u306b\u3088\u308a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306e\u305f\u3093\u3071\u304f\u8cea\u6052\u5e38\u6027\u304c\u7834\u7dbb\u3057\u3001\u547c\u5438\u9396\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3084\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u5f62\u614b\u7570\u5e38\u304c\u751f\u3058\u308b<\/strong>\u3053\u3068\u304c\u3001\u60a3\u8005\u7531\u6765\u7d30\u80de\u3067\u793a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\">CODAS\u75c7\u5019\u7fa4\u306f1991\u5e74\u306bShebib\u3089\u304c\u521d\u3081\u3066\u5831\u544a\u3057\u30012015\u5e74\u306b<strong>LONP1<\/strong> \u306e\u4e21\u30a2\u30ec\u30eb\u6027\u5909\u7570\u304c\u539f\u56e0\u3068\u540c\u5b9a\u3055\u308c\u305f\u3002<strong>\u5831\u544a\u3055\u308c\u305f\u5909\u7570\u306e\u591a\u304f\u306fATPase\u9818\u57df\u3068\u30d7\u30ed\u30c6\u30a2\u30fc\u30bc\u9818\u57df\u306e\u8fd1\u508d\u306b\u96c6\u307e\u308a\u3001\u6b8b\u5b58\u6d3b\u6027\u3092\u4fdd\u3064\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u304c\u4e2d\u5fc3\u3067\u3042\u308b<\/strong>\u3002<strong>\u30aa\u30fc\u30eb\u30c9\u30fb\u30aa\u30fc\u30c0\u30fc\u30fb\u30a2\u30fc\u30df\u30c3\u30b7\u30e5\u96c6\u56e3\u3067\u306f\u5275\u59cb\u8005\u5909\u7570\uff08p.Arg721Gly\uff09\u306b\u3088\u308a\u60a3\u8005\u304c\u96c6\u7a4d\u3059\u308b<\/strong>\u3053\u3068\u304c\u77e5\u3089\u308c\u308b\u3002\u7279\u5fb4\u7684\u6240\u898b\u306f\u3001\u5148\u5929\u6027\u767d\u5185\u969c\u3001\u8033\u8f2a\u306e\u904e\u5270\u306a\u6298\u308c\u8fbc\u307f\u3001\u81fc\u6b6f\u306e\u54ac\u982d\u5f62\u614b\u7570\u5e38\u3001\u690e\u4f53\u306e\u51a0\u72b6\u88c2\u3001\u9aa8\u7aef\u30fb\u9aa8\u5e79\u7aef\u306e\u7570\u5f62\u6210\u3001\u5589\u982d\u30fb\u6c17\u7ba1\u8edf\u5316\u75c7\u3067\u3042\u308b\u3002<\/p>\n\n\n<p class=\"wp-block-paragraph\"><strong>\u540c\u3058 LONP1 \u306e\u4e21\u30a2\u30ec\u30eb\u6027\u5909\u7570\u3067\u3082\u3001\u9aa8\u683c\u30fb\u773c\u30fb\u6b6f\u306e\u5f62\u614b\u7570\u5e38\u3092\u6b20\u304d\u3001\u4e73\u9178\u30a2\u30b7\u30c9\u30fc\u30b7\u30b9\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u75c7\u72b6\u3092\u4e3b\u4f53\u3068\u3059\u308b\u53e4\u5178\u7684\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306e\u8868\u73fe\u578b\u3092\u3068\u308b\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b<\/strong>\u3002CODAS\u75c7\u5019\u7fa4\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306e\u305f\u3093\u3071\u304f\u8cea\u54c1\u8cea\u7ba1\u7406\u306e\u7570\u5e38\u304c<strong>\u591a\u81d3\u5668\u306e\u767a\u751f\u7570\u5e38\uff08\u5f62\u614b\u5f62\u6210\u306e\u7570\u5e38\uff09<\/strong>\u3068\u3057\u3066\u73fe\u308c\u308b\u70b9\u3067\u3001\u3053\u306e\u8868\u73fe\u578b\u3068\u533a\u5225\u3055\u308c\u308b\u3002\u9451\u5225\u3068\u3057\u3066\u306f\u3001\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u75c7\u3001\u591a\u767a\u6027\u9aa8\u7aef\u7570\u5f62\u6210\u75c7\u3001\u810a\u690e\u9aa8\u7aef\u7570\u5f62\u6210\u75c7\u3001\u5148\u5929\u6027\u767d\u5185\u969c\u3092\u3068\u3082\u306a\u3046\u4ed6\u306e\u75c7\u5019\u7fa4\u304c\u6319\u304c\u308a\u3001<strong>\u81e8\u5e8a\u50cf\u304c\u91cd\u306a\u308b\u305f\u3081\u907a\u4f1d\u5b50\u8a3a\u65ad\u304c\u78ba\u5b9a\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308b<\/strong>\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\u3067\u78ba\u7387\u306b\u5dee\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3068\u306a\u308b\u78ba\u7387\u306f2\u5206\u306e1\u3067\u3059\u3002<strong>\u6b63\u78ba\u306a\u898b\u901a\u3057\u306e\u305f\u3081\u306b\u3001\u307e\u305a\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u78ba\u5b9a\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\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>\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u9aa8\u306e\u7279\u5fb4\u306a\u3069\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u3060\u3051\u3067\u3053\u306e\u75c5\u6c17\u3068\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u96e3\u3057\u3044\u306e\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/strong>\u524d\u306e\u304a\u5b50\u3055\u307e\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u524d\u691c\u67fb\u3084\u7740\u5e8a\u524d\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. \u540c\u3058\u907a\u4f1d\u5b50\u3067\u5225\u306e\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>LONP1 \u907a\u4f1d\u5b50\u306e\u5909\u5316\u3067\u306f\u3001CODAS\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306b\u76ee\u30fb\u6b6f\u30fb\u8033\u30fb\u9aa8\u306e\u7279\u5fb4\u304c\u305d\u308d\u3046\u5f62\u306e\u307b\u304b\u306b\u3001\u7b4b\u529b\u4f4e\u4e0b\u3084\u4e73\u9178\u306e\u4e0a\u6607\u306a\u3069\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5\u306e\u5f62\u3092\u3068\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u3069\u3061\u3089\u306e\u5f62\u306b\u306a\u308b\u304b\u306f\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306e\u7a2e\u985e\u306a\u3069\u304c\u95a2\u308f\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u307e\u3060\u308f\u304b\u3063\u3066\u3044\u306a\u3044\u3053\u3068\u3082\u591a\u3044\u305f\u3081\u3001\u5c02\u9580\u533b\u3068\u3088\u304f\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6210\u9577\u3059\u308b\u3068\u3069\u3046\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p class=\"wp-block-paragraph\">A. <strong>\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u898b\u901a\u3057\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u4e73\u5150\u671f\u306b\u547c\u5438\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u767d\u5185\u969c\u306e\u624b\u8853\u3084\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306a\u3069\u306e\u652f\u63f4\u3092\u53d7\u3051\u306a\u304c\u3089\u6210\u9577\u3057\u3066\u3044\u304f\u65b9\u3082\u3044\u307e\u3059\u3002<strong>\u65e9\u304f\u304b\u3089\u773c\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u30fb\u6b6f\u79d1\u30fb\u8033\u9f3b\u79d1\u306a\u3069\u304c\u9023\u643a\u3057\u3066\u898b\u5b88\u308b\u3053\u3068\u304c\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u3046\u3048\u3067\u5927\u5207\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>Strauss KA, Jinks RN, Puffenberger EG, et al. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. <em>Am J Hum Genet<\/em>. 2015;96(1):121-135.<\/li>\n\n\n\n<li>Dikoglu E, Alfaiz A, Gorna M, et al. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. <em>Am J Med Genet A<\/em>. 2015;167(7):1501-1509.<\/li>\n\n\n\n<li>Shebib SM, Reed MH, Shuckett EP, et al. Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome&#8211;a case report. <em>Am J Med Genet<\/em>. 1991;40(1):88-93.<\/li>\n\n\n\n<li>OMIM #600373 CODAS syndrome. 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-147874","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\/147874","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\/147874\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=147874"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}