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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2007-12-14
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pubmed:abstractText |
Herlitz junctional epidermolysis bullosa (HJEB; MIM 226700) is a rare epithelial adhesion disorder caused by null mutations in any of the three genes encoding the alpha3, beta3 and gamma2 chains of laminin-5, and is mainly characterized by extensive mucocutaneous blistering, recurrent infections and early lethality.
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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 |
Jan
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pubmed:issn |
0007-0963
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
158
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
38-44
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pubmed:meshHeading |
pubmed-meshheading:17916201-Base Sequence,
pubmed-meshheading:17916201-Cell Adhesion Molecules,
pubmed-meshheading:17916201-Child,
pubmed-meshheading:17916201-DNA Mutational Analysis,
pubmed-meshheading:17916201-Epidermolysis Bullosa, Junctional,
pubmed-meshheading:17916201-Epitope Mapping,
pubmed-meshheading:17916201-Female,
pubmed-meshheading:17916201-Genotype,
pubmed-meshheading:17916201-Heterozygote,
pubmed-meshheading:17916201-Humans,
pubmed-meshheading:17916201-Incidence,
pubmed-meshheading:17916201-Infant,
pubmed-meshheading:17916201-Infant, Newborn,
pubmed-meshheading:17916201-Italy,
pubmed-meshheading:17916201-Male,
pubmed-meshheading:17916201-Mutation,
pubmed-meshheading:17916201-Registries
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pubmed:year |
2008
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pubmed:articleTitle |
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.
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pubmed:affiliation |
Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, via dei Monti di Creta 104, Rome, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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