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pubmed-article:21198797pubmed:abstractTextHerlitz junctional epidermolysis bullosa (H-JEB) is an extremely rare genodermatosis characterized by lethality owing to severe blister formation. We report two unrelated Japanese patients with H-JEB. Genetic analyses detected a single nonsense mutation on the LAMC2 gene in these two patients.lld:pubmed
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pubmed-article:21198797pubmed:copyrightInfo© The Author(s). CED © 2010 British Association of Dermatologists.lld:pubmed
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pubmed-article:21198797pubmed:dateRevised2011-11-17lld:pubmed
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pubmed-article:21198797pubmed:year2011lld:pubmed
pubmed-article:21198797pubmed:articleTitleA Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa.lld:pubmed
pubmed-article:21198797pubmed:affiliationDepartment of Dermatology, Keio University School of Medicine, Tokyo, Japan.lld:pubmed
pubmed-article:21198797pubmed:publicationTypeJournal Articlelld:pubmed
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pubmed-article:21198797pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed