Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing-Reference-Cited by-同舟云学术

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Genetic diagnosis of a rare COL7A1 variant causing dystrophic epidermolysis bullosa pruriginosa through whole‑exome sequencing

Published:2023-09-11 Issue:5 Volume:26 Page:
ISSN:1792-0981
Container-title:Experimental and Therapeutic Medicine
language:
Short-container-title:Exp Ther Med

Author:

Yang Yanhui¹,Gao Yangmin²,Zhang Mengna¹,Qian Hua²,Zhao Ke¹,Wang Weijuan¹,Ma Yanxiu¹,Zhang Dan¹,Li Xiaoguang²,Hu Fengming²,Sun Xiaoming¹

Affiliation:

1. Key Laboratory of Aging and Cancer Biology, Department of Immunology and Pathogen Biology, School of Basic Medical Sciences, Hangzhou Normal University, Hangzhou, Zhejiang 311121, P.R. China

2. Jiangxi Provincial Clinical Research Center for Skin Diseases, Dermatology Hospital of Jiangxi Province, The Affiliated Dermatology Hospital of Nanchang University, Nanchang, Jiangxi 330200, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Immunology and Microbiology (miscellaneous),General Medicine

Reference48 articles.

1. Epidermolysis bullosa pruriginosa: Dystrophic epidermolysis bullosa with distinctive clinicopathological features;McGrath;Br J Dermatol,1994

2. Epidermolysis bullosa;Bardhan;Nat Rev Dis Primers,2020

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

4. Natural exon skipping sets the stage for exon skipping as therapy for dystrophic epidermolysis Bullosa;Bremer;Mol Ther Nucleic Acids,2019

5. Mutation analysis and molecular genetics of epidermolysis bullosa;Pulkkinen;Matrix Biol,1999

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