A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the <i>COL7A1</i> Gene-Reference-Cited by-同舟云学术

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A Case of Pretibial Epidermolysis Bullosa with Novel Mutations of the COL7A1 Gene

Published:2022 Issue:1 Volume:34 Page:81
ISSN:1013-9087
Container-title:Annals of Dermatology
language:en
Short-container-title:Ann Dermatol

Author:

Shimizu Yuri¹^ORCID,Kotobuki Yorihisa¹^ORCID,Arase Noriko¹^ORCID,Arase Hisashi²³^ORCID,Katayama Ichiro¹^ORCID,Fujimoto Manabu¹^ORCID

Affiliation:

1. Department of Dermatology, Course of Integrated Medicine, Graduate School of Medicine, Osaka University, Suita, Japan.

2. Department of Immunochemistry, Research Institute for Microbial Disease, Osaka University, Suita, Japan.

3. Laboratory of Immunochemistry, Immunology Frontier Research Center, Osaka University, Suita, Japan.

Publisher

Korean Dermatological Association and The Korean Society for Investigative Dermatology

Subject

Dermatology

Link

https://anndermatol.org/pdf/10.5021/ad.2022.34.1.81

Reference5 articles.

1. Novel glycine substitution G2037R of COL7A1 in a Chinese boy with pretibial epidermolysis bullosa treated with oral olopatadine hydrochloride and topical Vitamin E

2. Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype

3. Splicing mutation in theCOL7A1gene mRNA exon 71 in a female patient with pretibial epidermolysis bullosa

4. Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing

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. Dystrophic epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-10-16

2. Novel frameshift mutation in the noncollagenous region of the COL7A1 gene in pretibial epidermolysis bullosa;International Journal of Dermatology;2022-09-13

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