Inversa Dystrophic Epidermolysis Bullosa Is Caused by Missense Mutations at Specific Positions of the Collagenic Domain of Collagen Type VII-Reference-Cited by-同舟云学术

Inversa Dystrophic Epidermolysis Bullosa Is Caused by Missense Mutations at Specific Positions of the Collagenic Domain of Collagen Type VII

Published:2010-10 Issue:10 Volume:130 Page:2508-2511
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Chiaverini Christine,Charlesworth Alexandra V.,Youssef Monia,Cuny Jean-François,Rabia Smail H.,Lacour Jean-Philippe,Meneguzzi Guerrino

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference15 articles.

1. Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors;Baldeschi;Hum Mol Genet,2003

2. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin;Charlesworth;J Invest Dermatol,2003

3. Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms;Christiano;J Biol Chem,1994

4. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance;Christiano;Am J Hum Genet,1996

5. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa;Dang;Exp Dermatol,2008

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3. Epidermolysis Bullosa Dystrophica Inversa: Case Report of a Novel Genetic Mutation, Involving a Rare Genodermatoses;Indian Dermatology Online Journal;2023

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