{"id":60282,"date":"2023-08-25T09:51:42","date_gmt":"2023-08-25T00:51:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60282"},"modified":"2026-05-08T13:24:04","modified_gmt":"2026-05-08T04:24:04","slug":"epidermal-herpetiformis","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/epidermal-herpetiformis\/","title":{"rendered":"\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30c3\u30af\u8868\u76ae\u6c34\u75b1\u75c7"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30c3\u30af\u8868\u76ae\u6c34\u75b1\u75c7\uff08Dystrophic Epidermolysis Bullosa, DEB\uff09\u306f\u3001COL7A1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001DEB\u306e\u75c5\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6700\u65b0\u306e\u6cbb\u7642\u6cd5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u9032\u5c55\u3084\u60a3\u8005\u30b1\u30a2\u306e\u6700\u65b0\u60c5\u5831\u3082\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>COL7A1\uff5cDystrophic Epidermolysis Bullosa (COL7A1-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u6804\u990a\u76ae\u819a\u75be\u60a3\uff08Genodermatoses\uff09\u306e\u4e00\u7a2e\u3067\u3042\u308b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30c3\u30af\u8868\u76ae\u6c34\u75b1\u75c7\uff08Dystrophic Epidermolysis Bullosa, DEB\uff09\u306f\u3001\u76ae\u819a\u304a\u3088\u3073\u7c98\u819c\u306e\u8106\u5f31\u6027\u3092\u7279\u5fb4\u3068\u3059\u308b\u5e0c\u5c11\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306fCOL7A1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u4e3b\u306b\u76ae\u819a\u3068\u771f\u76ae\u306e\u63a5\u5408\u90e8\u306b\u5b58\u5728\u3059\u308bVII\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\uff08Type VII Collagen, C7\uff09\u306e\u6b20\u640d\u3084\u6a5f\u80fd\u4f4e\u4e0b\u3092\u4f34\u3046\u3002VII\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306f\u3001\u57fa\u5e95\u819c\u3068\u771f\u76ae\u3092\u63a5\u7740\u3059\u308b\u30a2\u30f3\u30ab\u30ea\u30f3\u30b0\u30d5\u30a3\u30d6\u30ea\u30eb\u3092\u5f62\u6210\u3057\u3001\u76ae\u819a\u306e\u69cb\u9020\u7684\u5b89\u5b9a\u6027\u3092\u7dad\u6301\u3059\u308b\u5f79\u5272\u3092\u679c\u305f\u3059\u3002<\/p>\n\n\n\n<p>DEB\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u578b\uff08Dominant Dystrophic Epidermolysis Bullosa, DDEB\uff09\u3068\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u578b\uff08Recessive Dystrophic Epidermolysis Bullosa, RDEB\uff09\u306e2\u3064\u306e\u5f62\u614b\u306b\u5206\u985e\u3055\u308c\u308b\u3002DDEB\u306f\u6bd4\u8f03\u7684\u8efd\u75c7\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u304c\u3001RDEB\u306f\u91cd\u7be4\u306a\u6c34\u75b1\u5f62\u6210\u3084\u6162\u6027\u7684\u306a\u50b7\u5bb3\u3001\u7622\u75d5\u5316\u3092\u4f34\u3044\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u81f4\u6b7b\u7684\u306a\u5408\u4f75\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u5e7c\u5c11\u671f\u304b\u3089\u75c7\u72b6\u304c\u767a\u73fe\u3057\u3001\u4e00\u751f\u306b\u308f\u305f\u308b\u7ba1\u7406\u304c\u5fc5\u8981\u3068\u3055\u308c\u308b\u3002\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u306f\u3001\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3042\u308b\u304c\u3001\u8fd1\u5e74\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u7d30\u80de\u6cbb\u7642\u3068\u3044\u3063\u305f\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>DEB\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u5168\u4e16\u754c\u306e\u767a\u751f\u7387\u306f\u7d0450\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002\u767a\u75c7\u7387\u3084\u91cd\u75c7\u5ea6\u306f\u907a\u4f1d\u7684\u80cc\u666f\u3084\u5730\u57df\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u3002\u7279\u306bRDEB\u306f\u3001\u8840\u7e01\u5a5a\u306e\u591a\u3044\u5730\u57df\u3067\u306e\u767a\u751f\u7387\u304c\u9ad8\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001DDEB\u3068RDEB\u306e\u5272\u5408\u306b\u95a2\u3057\u3066\u3001\u5927\u898f\u6a21\u306a\u30b3\u30db\u30fc\u30c8\u7814\u7a76\uff08310\u5bb6\u7cfb\uff09\u306b\u304a\u3044\u3066\u3001DDEB\u304c15.5%\u3001RDEB\u304c84.5%\u3092\u5360\u3081\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u305f\u3002\u307e\u305f\u3001RDEB\u5bb6\u7cfb\u306e\u4e00\u90e8\uff082.3%\uff09\u3067\u306f\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u5909\u7570\u3068\u52a3\u6027\u5909\u7570\u306e\u4e21\u65b9\u3092\u6301\u3064\u75c7\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u907a\u4f1d\u7684\u306a\u591a\u69d8\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>DEB\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308bCOL7A1\u306f\u3001\u7b2c3\u67d3\u8272\u4f53\uff083p21.31\uff09\u306b\u4f4d\u7f6e\u3057\u3001VII\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u03b11\u9396\uff08COL7A1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u76ae\u819a\u306e\u57fa\u5e95\u819c\u3068\u771f\u76ae\u3092\u63a5\u7740\u3059\u308b\u30a2\u30f3\u30ab\u30ea\u30f3\u30b0\u30d5\u30a3\u30d6\u30ea\u30eb\u3092\u5f62\u6210\u3057\u3001\u6a5f\u68b0\u7684\u30b9\u30c8\u30ec\u30b9\u306b\u5bfe\u3059\u308b\u62b5\u6297\u6027\u3092\u63d0\u4f9b\u3059\u308b\u3002<\/p>\n\n\n\n<p>COL7A1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u3001DDEB\u304a\u3088\u3073RDEB\u306e\u4e21\u65b9\u306e\u75c5\u578b\u3092\u5f15\u304d\u8d77\u3053\u3059\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002\u901a\u5e38\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306fDDEB\u3068\u95a2\u9023\u3057\u3001\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u3084\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u306fRDEB\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3002\u3057\u304b\u3057\u3001\u4e00\u90e8\u306e\u30b0\u30ea\u30b7\u30f3\u7f6e\u63db\u5909\u7570\u306f\u3001\u5e38\u67d3\u8272\u4f53\u512a\u6027\u304a\u3088\u3073\u52a3\u6027\u306e\u4e21\u65b9\u306e\u8868\u73fe\u578b\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u3001\u534a\u512a\u6027\u907a\u4f1d\uff08semi-dominance\uff09\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>DEB\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u3001\u907a\u4f1d\u578b\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308b\u3002DDEB\u3067\u306f\u3001\u6bd4\u8f03\u7684\u8efd\u5ea6\u306e\u6c34\u75b1\u5f62\u6210\u3001\u7622\u75d5\u3001\u722a\u306e\u7570\u5e38\uff08\u722a\u7532\u80a5\u539a\u3001\u6b20\u640d\uff09\u304c\u4e3b\u306a\u75c7\u72b6\u3067\u3042\u308b\u3002\u4e00\u65b9\u3001RDEB\u3067\u306f\u3001\u5168\u8eab\u6027\u306e\u6c34\u75b1\u5f62\u6210\u3001\u91cd\u5ea6\u306e\u7622\u75d5\u5316\u3001\u6307\u8dbe\u306e\u7652\u5408\uff08\u30df\u30c3\u30c8\u30f3\u5909\u5f62\uff09\u3001\u773c\u3084\u53e3\u8154\u5185\u306e\u75c5\u5909\u306a\u3069\u304c\u307f\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>RDEB\u306e\u60a3\u8005\u3067\u306f\u3001\u6162\u6027\u7684\u306a\u76ae\u819a\u640d\u50b7\u304c\u9032\u884c\u3059\u308b\u3068\u3001\u4e8c\u6b21\u7684\u306a\u5408\u4f75\u75c7\u3068\u3057\u3066\u6d78\u6f64\u6027\u6241\u5e73\u4e0a\u76ae\u764c\uff08SCC\uff09\u306e\u767a\u751f\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3002SCC\u306fRDEB\u60a3\u8005\u306e\u4e3b\u8981\u306a\u6b7b\u56e0\u306e\u4e00\u3064\u3067\u3042\u308a\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u304c\u6c42\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>DEB\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u65b9\u6cd5\u304c\u7528\u3044\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad<\/strong>\uff1a\u6c34\u75b1\u5f62\u6210\u306e\u7a0b\u5ea6\u3001\u5bb6\u65cf\u6b74\u3001\u7622\u75d5\u5316\u306e\u6709\u7121\u3092\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u751f\u691c<\/strong>\uff1a\u514d\u75ab\u86cd\u5149\u67d3\u8272\uff08IFM\uff09\u306b\u3088\u308a\u3001VII\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u767a\u73fe\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u96fb\u5b50\u9855\u5fae\u93e1\u691c\u67fb\uff08EM\uff09<\/strong>\uff1a\u30a2\u30f3\u30ab\u30ea\u30f3\u30b0\u30d5\u30a3\u30d6\u30ea\u30eb\u306e\u69cb\u9020\u7570\u5e38\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aCOL7A1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u305f\u3081\u306e\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08WES\uff09\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>DEB\u306b\u5bfe\u3059\u308b\u6a19\u6e96\u6cbb\u7642\u306f\u73fe\u5728\u78ba\u7acb\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5275\u50b7\u7ba1\u7406<\/strong>\uff1a\u975e\u63a5\u7740\u6027\u306e\u88ab\u8986\u6750\u3092\u4f7f\u7528\u3057\u3001\u611f\u67d3\u3092\u9632\u3050\u3002<\/li>\n\n\n\n<li><strong>\u75bc\u75db\u7ba1\u7406<\/strong>\uff1a\u93ae\u75db\u85ac\u3084\u5c40\u6240\u9ebb\u9154\u85ac\u3092\u4f7f\u7528\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406<\/strong>\uff1a\u6d88\u5316\u7ba1\u75c5\u5909\u3092\u4f34\u3046\u60a3\u8005\u3067\u306f\u7d4c\u8178\u6804\u990a\u304c\u5fc5\u8981\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5<\/strong>\uff1a\u7622\u75d5\u62d8\u7e2e\u3092\u9632\u3050\u305f\u3081\u306e\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u8fd1\u5e74\u3001\u4ee5\u4e0b\u306e\u5148\u9032\u7684\u6cbb\u7642\u6cd5\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642<\/strong>\uff1aCRISPR-Cas9\u3084\u5869\u57fa\u7de8\u96c6\uff08base editing\uff09\u3092\u7528\u3044\u305fCOL7A1\u306e\u907a\u4f1d\u5b50\u4fee\u5fa9\u3002<\/li>\n\n\n\n<li><strong>\u7d30\u80de\u7642\u6cd5<\/strong>\uff1a\u7dda\u7dad\u82bd\u7d30\u80de\u3084\u9593\u8449\u7cfb\u5e79\u7d30\u80de\uff08MSC\uff09\u306e\u79fb\u690d\u306b\u3088\u308bVII\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u88dc\u5145\u3002<\/li>\n\n\n\n<li><strong>\u30bf\u30f3\u30d1\u30af\u8cea\u88dc\u5145\u7642\u6cd5<\/strong>\uff1a\u5916\u56e0\u6027VII\u578b\u30b3\u30e9\u30fc\u30b2\u30f3\u306e\u6295\u4e0e\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>DDEB\u306e\u60a3\u8005\u306f\u6bd4\u8f03\u7684\u8efd\u75c7\u3067\u3042\u308a\u3001\u901a\u5e38\u306e\u751f\u6d3b\u304c\u53ef\u80fd\u3067\u3042\u308b\u304c\u3001\u76ae\u819a\u75c7\u72b6\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002\u4e00\u65b9\u3001RDEB\u306e\u60a3\u8005\u306f\u751f\u6daf\u306b\u308f\u305f\u308b\u5275\u50b7\u7ba1\u7406\u3068\u533b\u7642\u652f\u63f4\u304c\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u3001\u91cd\u5ea6\u306e\u75c7\u4f8b\u3067\u306f30\u4ee3\u4ee5\u524d\u306bSCC\u306b\u3088\u308b\u6b7b\u4ea1\u7387\u304c\u9ad8\u307e\u308b\u3002<\/p>\n\n\n\n<p>\u65b0\u898f\u6cbb\u7642\u306e\u958b\u767a\u304c\u9032\u3080\u306b\u3064\u308c\u3001DEB\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u5411\u4e0a\u3068\u5bff\u547d\u306e\u5ef6\u9577\u304c\u671f\u5f85\u3055\u308c\u308b\u3002\u4eca\u5f8c\u306e\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u7d30\u80de\u6cbb\u7642\u306e\u9032\u5c55\u306b\u3088\u308a\u3001\u6839\u6cbb\u7642\u6cd5\u306e\u5b9f\u73fe\u304c\u5f85\u305f\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00403-025-04056-7\">Sama, A.D., Avci Durmusalioglu, E., Isik, E. <em>et al.<\/em> Molecular insights into genodermatoses: Genetic findings from 43 patients. <em>Arch Dermatol Res<\/em> <strong>317<\/strong>, 512 (2025). https:\/\/doi.org\/10.1007\/s00403-025-04056-7<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.4062\/biomolther.2024.127\">Kim, J., Kim, H., Seo, W. Y., Lee, E., &amp; Cho, D. (2024). Collagen Type VII (COL7A1) as a Longevity Mediator in <em>Caenorhabditis elegans<\/em>: Anti-Aging Effects on Healthspan Extension and Skin Collagen Synthesis. <em>Biomolecules &amp; therapeutics<\/em>, <em>32<\/em>(6), 801\u2013811. https:\/\/doi.org\/10.4062\/biomolther.2024.127<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3892\/ol.2023.13663\">Ding, C., Yu, Z., Li, X., Zhu, J., Dai, M., &amp; He, Q. (2023). Collagen type VII \u03b11 chain: A promising prognostic and immune infiltration biomarker of pancreatic cancer. <em>Oncology Letters<\/em>, <em>25<\/em>(2), 77. https:\/\/doi.org\/10.3892\/ol.2023.13663<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/mgg3.2258\">Zhao, C., Cao, S., Gao, X., Xu, X., &amp; Gu, L. (2023). Identification of a novel <em>COL7A1<\/em> variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab. <em>Molecular Genetics &amp; Genomic Medicine<\/em>, <em>11<\/em>(11), e2258. https:\/\/doi.org\/10.1002\/mgg3.2258<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12920-024-02077-1\">Sattar, S., Bharadwaj, T., Kalsoom, Ue. <em>et al.<\/em> A pathogenic <em>COL7A1<\/em> variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa. <em>BMC Med Genomics<\/em> <strong>18<\/strong>, 26 (2025). https:\/\/doi.org\/10.1186\/s12920-024-02077-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.omtn.2021.05.015\">Kocher, T., Bischof, J., Haas, S. A., March, O. P., Liemberger, B., Hainzl, S., Illmer, J., Hoog, A., Muigg, K., Binder, H.-M., Klausegger, A., Strunk, D., Bauer, J. W., Cathomen, T., &amp; Koller, U. (2021). A non-viral and selection-free COL7A1 HDR approach with improved safety profile for dystrophic epidermolysis bullosa. <em>Molecular Therapy &#8211; Nucleic Acids<\/em>, <em>25<\/em>, 237\u2013250. https:\/\/doi.org\/10.1016\/j.omtn.2021.05.015<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30c3\u30af\u8868\u76ae\u6c34\u75b1\u75c7, DEB, COL7A1, VII\u578b\u30b3\u30e9\u30fc\u30b2\u30f3, \u907a\u4f1d\u6027\u76ae\u819a\u75be\u60a3, \u8868\u76ae\u6c34\u75b1\u75c7, \u76ae\u819a\u75be\u60a3, \u907a\u4f1d\u5b50\u6cbb\u7642, \u7d30\u80de\u7642\u6cd5, \u514d\u75ab\u7642\u6cd5, \u30b9\u30ad\u30f3\u30b1\u30a2, \u5275\u50b7\u7ba1\u7406<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60282","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\/60282","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":9,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60282\/revisions"}],"predecessor-version":[{"id":128100,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60282\/revisions\/128100"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60282"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}