{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,14]],"date-time":"2023-10-14T08:14:26Z","timestamp":1697271266378},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2006,10,16]],"date-time":"2006-10-16T00:00:00Z","timestamp":1160956800000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We describe a 19\u2010year\u2010old Japanese male with K\u00f6bner\u2010type epidermolysis bullosa simplex (EBS\u2010KB) with a novel keratin gene mutation. The patient developed blisters on the feet, palms, elbows and knees soon after birth. His father is similarly affected with blistering, but his mother and younger brother are not affected. Histological examination revealed that the primary separation in the blister occurred within the basal cell layer. Sequence analysis demonstrated an A\u2010to\u2010T transition at the second position of codon 158 in the keratin 5 (K5) gene. The amino acid at codon 158 was deduced to have changed from asparagine to valine. We identified a novel mutation (Asp158Val) in the H1 domain of the K5 gene in this Japanese patient with EBS\u2010KB. This is the first gene mutation report of EBS\u2010KB in the H1 domain of the K5 gene.<\/jats:p>","DOI":"10.1111\/j.1346-8138.2006.00160.x","type":"journal-article","created":{"date-parts":[[2006,10,18]],"date-time":"2006-10-18T06:20:50Z","timestamp":1161152450000},"page":"692-695","source":"Crossref","is-referenced-by-count":1,"title":["Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with K\u00f6bner\u2010type epidermolysis bullosa simplex"],"prefix":"10.1111","volume":"33","author":[{"given":"Hidehisa","family":"SAEKI","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kensuke","family":"NAKAMURA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichiro","family":"TSUNEMI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mayumi","family":"KOMINE","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunihiko","family":"TAMAKI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,10,16]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.1961.35"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12398887"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1720261"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90645-F"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/356244a0"},{"key":"e_1_2_5_7_2","first-page":"166","volume-title":"Comprehensive Handbook of Clinical Dermatology","author":"Kitajima Y.","year":"2002"},{"key":"e_1_2_5_8_2","first-page":"1415","article-title":"Genetic diagnosis of epidermolysis bullosa simplex in the department of dermatology, Kurume University School of Medicine","volume":"114","author":"Hamada T","year":"2004","journal-title":"Jpn J Dermatol"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0906-6705.2004.0120.x"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2004.01565.x"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0906-6705.2004.00171.x"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00495.x"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2002.tb00236.x"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.8.3197"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2000.03358.x"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1346-8138.2006.00160.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1346-8138.2006.00160.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T07:05:00Z","timestamp":1697180700000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1346-8138.2006.00160.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10]]},"references-count":14,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2006,10]]}},"alternative-id":["10.1111\/j.1346-8138.2006.00160.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1346-8138.2006.00160.x","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10]]}}}