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-Reference-Cited by-同舟云学术

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:2010-06 Issue:6 Volume:130 Page:1551-1557
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Groves Richard W.,Liu Lu,Dopping-Hepenstal Patricia J.,Markus Hugh S.,Lovell Patricia A.,Ozoemena Linda,Lai-Cheong Joey E.,Gawler Jeffrey,Owaribe Katsushi,Hashimoto Takashi,Mellerio Jemima E.,Mee John B.,McGrath John A.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference37 articles.

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