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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2011-5-13
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pubmed:abstractText |
Herlitz 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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1365-2230
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pubmed:author |
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pubmed:copyrightInfo |
© The Author(s). CED © 2010 British Association of Dermatologists.
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pubmed:issnType |
Electronic
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pubmed:volume |
36
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
386-92
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:21198797-Asian Continental Ancestry Group,
pubmed-meshheading:21198797-Codon, Nonsense,
pubmed-meshheading:21198797-DNA Mutational Analysis,
pubmed-meshheading:21198797-Epidermolysis Bullosa, Junctional,
pubmed-meshheading:21198797-Fatal Outcome,
pubmed-meshheading:21198797-Female,
pubmed-meshheading:21198797-Haplotypes,
pubmed-meshheading:21198797-Humans,
pubmed-meshheading:21198797-Infant,
pubmed-meshheading:21198797-Laminin,
pubmed-meshheading:21198797-Male,
pubmed-meshheading:21198797-Pedigree,
pubmed-meshheading:21198797-Pregnancy,
pubmed-meshheading:21198797-Prenatal Diagnosis
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pubmed:year |
2011
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pubmed:articleTitle |
A Japanese-specific recurrent mutation and a novel splice site mutation in the LAMC2 gene identified in two Japanese families with Herlitz junctional epidermolysis bullosa.
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pubmed:affiliation |
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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