Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa-Reference-Cited by-同舟云学术

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa

Published:2012-02 Issue:2 Volume:65 Page:149-152
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Rodríguez Fernando A.,Gana María José,Yubero María Joao,Zillmann Gisela,Krämer Susanne M.,Catalán Javiera,Rubio-Astudillo Julia,González Sergio,Liu Lu,Ozoemena Linda,Mellerio Jemima M.,McGrath John A.,Palisson Francis,Conget Paulette

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference16 articles.

1. Inherited epidermolysis bullosa: definition and historical overview. In the epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the National Epidermolysis Bullosa Registry;Fine,1999

2. Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene;Hovnanian;J Clin Invest,1992

3. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa;Bruckner-Tuderman;Matrix Biol,1999

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

5. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa;Christiano;Hum Mutat,1997

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