A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia-Reference-Cited by-同舟云学术

A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia

Published:2008-04-22 Issue:7 Volume:300 Page:389-391
ISSN:0340-3696
Container-title:Archives of Dermatological Research
language:en
Short-container-title:Arch Dermatol Res

Author:

Li Ming,Xu Tian-Yi,Yang Li-Jia,Zhu Xiao-Hong

Publisher

Springer Science and Business Media LLC

Subject

Dermatology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00403-008-0855-0.pdf

Reference24 articles.

1. Bayes M, Hartung A, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J (1998) The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin A with deletion mutations in collagenous repeats. Hum Mol Genet 7:1661–1669

2. Chao SC, Chung CH, Yang CC, Yang MH, Lee JY (2003) Mutation analysis of X-linked hypohidrotic ectodermal dysplasia in a Taiwanese family. J Formos Med Assoc 102:412–417

3. Clarke A (1987) Hypohidrotic ectodermal dysplasia. J Med Genet 24:659–663

4. Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J (1999) Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet 8:2079–2086

5. Ferguson B, Thomas N, Munoz F, Morgan D, Clarke A, Zonana J (1998) Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. J Med Genet 35:112–115

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3. Missense mutation of EDA1 gene in Japanese family with X-linked anhidrotic ectodermal dysplasia;Pediatric Dental Journal;2012