{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T13:16:11Z","timestamp":1784380571125,"version":"3.55.0"},"reference-count":5,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T00:00:00Z","timestamp":1209600000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T00:00:00Z","timestamp":1209600000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jdsjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Dermatological Science"],"published-print":{"date-parts":[[2008,5]]},"DOI":"10.1016\/j.jdermsci.2007.12.005","type":"journal-article","created":{"date-parts":[[2008,1,24]],"date-time":"2008-01-24T15:57:35Z","timestamp":1201190255000},"page":"147-150","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genotype\u2013phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216 + 5G &gt; T in the COL7A1 gene results in aberrant and normal splicings"],"prefix":"10.1016","volume":"50","author":[{"given":"Takahiro","family":"Hamada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunpei","family":"Fukuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norito","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachiko","family":"Sakaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takako","family":"Ishikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshifumi","family":"Abe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichiro","family":"Yasumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Hashimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajime","family":"Nakano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Sawamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdermsci.2007.12.005_bib1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1136\/jmg.2006.045302","article-title":"Epidermolysis bullosa. II. Type VII collagen mutations and phenotype\u2013genotype correlations in the dystrophic subtypes","volume":"44","author":"Varki","year":"2007","journal-title":"J Med Genet"},{"key":"10.1016\/j.jdermsci.2007.12.005_bib2","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s10038-005-0290-4","article-title":"Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa","volume":"50","author":"Sawamura","year":"2005","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jdermsci.2007.12.005_bib3","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<408::AID-HUMU12>3.0.CO;2-3","article-title":"Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa","volume":"10","author":"Christiano","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jdermsci.2007.12.005_bib4","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1046\/j.1523-1747.1998.00326.x","article-title":"Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa","volume":"111","author":"Kon","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.jdermsci.2007.12.005_bib5","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1046\/j.1523-1747.1999.00601.x","article-title":"Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity","volume":"112","author":"Tamai","year":"1999","journal-title":"J Invest Dermatol"}],"container-title":["Journal of Dermatological Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181107004161?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0923181107004161?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T04:46:24Z","timestamp":1760330784000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0923181107004161"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,5]]}},"alternative-id":["S0923181107004161"],"URL":"https:\/\/doi.org\/10.1016\/j.jdermsci.2007.12.005","relation":{},"ISSN":["0923-1811"],"issn-type":[{"value":"0923-1811","type":"print"}],"subject":[],"published":{"date-parts":[[2008,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genotype\u2013phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216+5G>T in the COL7A1 gene results in aberrant and normal splicings","name":"articletitle","label":"Article Title"},{"value":"Journal of Dermatological Science","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdermsci.2007.12.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}