The Most Common Mutation of KRT9, c.C487T (p.R163W), in Epidermolytic Palmoplantar Keratoderma in Two Large Chinese Pedigrees-Reference-Cited by-同舟云学术

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The Most Common Mutation of KRT9, c.C487T (p.R163W), in Epidermolytic Palmoplantar Keratoderma in Two Large Chinese Pedigrees

Published:2012-01-20 Issue:4 Volume:295 Page:604-609
ISSN:1932-8486
Container-title:The Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
language:en
Short-container-title:Anat Rec

Author:

Liu Wen-Ting,Ke Hai-Ping,Zhao Yan,Chen Xiao-Ling,Lu Jia-Jun,Du Zheng-Fang,Yu Dan,Zhang Xian-Ning

Publisher

Wiley

Subject

Ecology, Evolution, Behavior and Systematics,Histology,Biotechnology,Anatomy

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ar.22409/fullpdf

Reference39 articles.

1. Keratin gene mutations in disorders of human skin and its appendages;Chamcheu;Arch Biochem Biophys,2011

2. Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred;Chen;Prenat Diagn,2009

3. Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads;Chiu;J Dermatol Sci,2007

4. Knuckle pads, in an epidermal palmoplantar keratoderma patient with keratin 9 R163W transgrediens expression;Codispoti;Eur J Dermatol,2009

5. The CpG dinucleotides and human genetic disease;Cooper;Hum Genet,1988

Cited by 6 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. Identification of a Novel KRT9 Frameshift Mutation in a Chinese Pedigree with Epidermolytic Palmoplantar Keratoderma;INTERNATIONAL JOURNAL OF HUMAN GENETICS;2021-11-25

2. Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma;Frontiers in Genetics;2019-01-07

3. Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma;The Journal of Dermatology;2017-10-25

4. On the differential diagnosis of the palmoplantar hyperkeratotic dermatoses;Klinicheskaya dermatologiya i venerologiya;2016

5. KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma;Gene;2014-08

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