A case of the novel mutation p.L311P in <i>KRT5</i> causing localized epidermolysis bullosa simplex in East Asian population-Reference-Cited by-同舟云学术

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A case of the novel mutation p.L311P in KRT5 causing localized epidermolysis bullosa simplex in East Asian population

Published:2023-07-27 Issue: Volume:0 Page:1-2
ISSN:0973-3922
Container-title:Indian Journal of Dermatology, Venereology and Leprology
language:en
Short-container-title:IJDVL

Author:

Yeon Yun So¹,Ho Kim Yeong²,Hee Han Ju²,Kim Myungshin³,Lee JiHyun²,Min Park Young²,Hwan Bang Chul²

Affiliation:

1. Department of Dermatology, Uijeongbu ST. Mary’s Hospital, Gyeonggi, Seoul, Republic of Korea

2. Department of Dermatology, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea

3. Department of Laboratory Medicine, Seoul St. Mary’s Hospital, Seoul, Republic of Korea

Publisher

Scientific Scholar

Subject

Infectious Diseases,Dermatology

Reference5 articles.

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

2. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification;Fine;J Am Acad Dermatol,2014

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

4. The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer;Steinert;J Biol Chem,1990

5. Threonine 150 phosphorylation of keratin 5 is linked to epidermolysis bullosa simplex and regulates filament assembly and cell viability;Sawant;J Invest Dermatol,2018

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