{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T08:57:54Z","timestamp":1791536274195,"version":"4.3.4"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,2,18]],"date-time":"2014-02-18T00:00:00Z","timestamp":1392681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Junctional epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">JEB<\/jats:styled-content>) is a heritable blistering skin disease characterized by separation within the lamina lucida. It is caused by mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">LAMA<\/jats:styled-content>3<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">LAMB<\/jats:styled-content>3<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">LAMC<\/jats:styled-content>2<\/jats:italic> genes encoding the \u03b13\u2010, \u03b23\u2010 and \u03b32\u2010chains, respectively, of laminin\u2010332. <jats:styled-content style=\"fixed-case\">JEB<\/jats:styled-content> Herlitz type (<jats:styled-content style=\"fixed-case\">JEB<\/jats:styled-content>\u2010H) is a lethal blistering disease with severe cutaneous and extracutaneous involvements caused by null mutations in the gene encoding laminin\u2010332. Here, we report a proband with <jats:styled-content style=\"fixed-case\">JEB<\/jats:styled-content>\u2010H who is a compound heterozygote for two novel mutations in <jats:italic><jats:styled-content style=\"fixed-case\">LAMC<\/jats:styled-content>2<\/jats:italic>; a missense mutation (c.79G&gt;A) and an insertion mutation (382insT) leading to a premature termination codon.<\/jats:p>","DOI":"10.1111\/1346-8138.12413","type":"journal-article","created":{"date-parts":[[2014,2,18]],"date-time":"2014-02-18T11:39:41Z","timestamp":1392723581000},"page":"322-324","source":"Crossref","is-referenced-by-count":5,"title":["Novel compound heterozygous mutation in <i><scp>LAMC<\/scp>2<\/i> genes (c.79G&gt;A and 382insT) in Herlitz junctional epidermolysis bullosa"],"prefix":"10.1111","volume":"41","author":[{"given":"In Kyung","family":"Jeon","sequence":"first","affiliation":[{"name":"Department of Dermatology Gangnam Severance Hospital Cutaneous Biology Research Institute Yonsei University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song\u2010Ee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Dermatology Gangnam Severance Hospital Cutaneous Biology Research Institute Yonsei University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo\u2010Chan","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Dermatology Gangnam Severance Hospital Cutaneous Biology Research Institute Yonsei University College of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,2,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.02.004"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10553.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700219"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039685"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1210-y"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2002.119673"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01453.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(03)01533-X"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12346246"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M406210200"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2008.00723.x"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2F1346-8138.12413","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.12413","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:14:29Z","timestamp":1695572069000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.12413"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,18]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["10.1111\/1346-8138.12413"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.12413","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,18]]}}}