Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A-Reference-Cited by-同舟云学术

Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A

Published:2022-06 Issue:3 Volume:106 Page:193-195
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Akasaka Eijiro,Nakano Hajime,Sawamura Daisuke

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference7 articles.

1. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility;Has;Br. J. Dermatol.,2020

2. Dystrophic epidermolysis bullosa: pathogenesis and clinical features;Bruckner-Tuderman;Dermatol. Clin.,2010

3. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa;Tamai;Lab. Invest.,1997

4. Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa;Sawamura;J. Hum. Genet.,2005

5. Dystrophic epidermolysis bullosa: a review;Shinkuma;Clin. Cosmet Investig. Dermatol.,2015

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family;Frontiers in Pediatrics;2022-11-07

2. Erratum to “Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harbouring the novel COL7A1 mutation c.3570G>A” [J. Dermatol. Sci. 106(3) (2022) 193–195];Journal of Dermatological Science;2022-10