Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma-Reference-Cited by-同舟云学术

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Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma

Published:2017-10-25 Issue:4 Volume:45 Page:e72-e73
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Fukunaga Yoshie¹,Kubo Akiharu²^ORCID,Sasaki Takashi³,Tsuruta Daisuke¹,Fukai Kazuyoshi¹^ORCID

Affiliation:

1. Department of Dermatology; Osaka City University Graduate School of Medicine; Osaka Japan

2. Department of Dermatology; Keio University School of Medicine; Tokyo Japan

3. Center for Supercentenarian Medical Research; Keio University School of Medicine; Tokyo Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14115/fullpdf

Reference5 articles.

1. Hereditary epidermolytic palmoplantar keratoderma (Vörner type). Report of a familial case and review of the literature;Kanitakis;J Am Acad Dermatol,1987

2. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK);Reis;Nat Genet,1994

3. The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees;Liu;Anat Rec (Hoboken),2012

4. Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation;Osawa;J Am Acad Dermatol,2011

5. Spectrum of disease-causing mutations in protein secondary structures;Khan;BMC Struct Biol,2007

Cited by 3 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. An in‐frame 18 bp deletion in linker domain L1 of KRT9 identified in a Japanese patient with epidermolytic palmoplantar keratoderma;The Journal of Dermatology;2023-07-03

2. Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma;INTERNATIONAL JOURNAL OF HUMAN GENETICS;2021-11-25

3. Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma;Molecular Genetics & Genomic Medicine;2019-05-09

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