Identification of mutations in theCOL7A1gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency-Reference-Cited by-同舟云学术

Identification of mutations in theCOL7A1gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency

Published:2003-01 Issue:1 Volume:28 Page:80-84
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Horev L.,Waran Lalin T.,Martinez-Mir A.,Bagheri B. A.,Tadin-Strapps M.,Schneiderman P. I.,Grossman M. E.,Bickers D. R.,Christiano A. M.

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2230.2003.01190.x/fullpdf

Reference16 articles.

1. Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive epidermolysis bullosa;Mellerio;J Invest Dermatol,1997

2. Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive epidermolysis bullosa;Hovnanian;Am J Hum Genet,1994

3. Diagnostic dilemma of ‘sporadic’ cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?;Hashimoto;Exp Dermatol,1999

4. Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa;Christiano;J Invest Dermatol,1996

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1. New onset mitral regurgitation caused by mitral valve prolapse in a male patient with dominant pretibial dystrophic epidermolysis bullosa;Indian Journal of Dermatology;2022

2. Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa;Molecular Genetics & Genomic Medicine;2020-06-14

3. Future Therapies for Epidermolysis Bullosa;Blistering Diseases;2015

4. A novel homozygous splice site mutation in COL7A1 in a Chinese patient with severe recessive dystrophic epidermolysis bullosa and squamous cell carcinoma;International Journal of Dermatology;2010-12-23

5. Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa;Clinical and Experimental Dermatology;2005-05