A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Published 2010 View Full Article

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Title
A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex
Authors
Keywords
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Journal
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Volume 130, Issue 6, Pages 1551-1557
Publisher
Elsevier BV
Online
2010-02-18
DOI
10.1038/jid.2010.19

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