Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa-Reference-Cited by-同舟云学术

Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

Published:2012-11-30 Issue:11 Volume:7 Page:e50579
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Lin Ying,Chen Xue-Jun,Liu Wei,Gong Bo,Xie Jun,Xiong Jun-Hao,Cheng Jing,Duan Xi-Ling,Lin Zhao-Chun,Huang Lu-Lin,Wan Hui-Ying,Liu Xiao-Qi,Song Lin-Hong,Yang Zheng-Lin

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference37 articles.

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2. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa;AM Christiano;Nat Genet,1993

3. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotypecorrelations in the dystrophic subtypes;R Varki;J Med Genet,2007

4. The COL7A1 mutation database;K Wertheim-Tysarowska;Hum Mutat,2012

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

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