Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa-Reference-Cited by-同舟云学术

Compound Heterozygosity for a Recessive Glycine Substitution and a Splice Site Mutation in the COL7A1 Gene Causes an Unusually Mild Form of Localized Recessive Dystrophic Epidermolysis Bullosa

Published:1998-11 Issue:5 Volume:111 Page:744-750
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Terracina Michela,Posteraro Patrizia,Zambruno Giovanna,Castiglia Daniele,Schubert Margit,Sonego Giulio,Atzori Francesco,Bruckner-Tuderman Leena

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

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5. Type VII collagen, anchoring fibrils and epidermolysis bullosa;Burgeson;J Invest Dermatol,1993

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