A novel arginine→serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia

被引：11

作者：

Aoki, N ^{[1
]}

Ito, K ^{[1
]}

Tachibana, T ^{[1
]}

Ito, M ^{[1
]}

机构：

[1] Niigata Univ, Sch Med, Dept Dermatol, Niigata 9518510, Japan

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2000年 / 115卷 / 02期

关键词：

D O I：

10.1046/j.1523-1747.2000.00065-1.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：329 / 330

页数：2

共 5 条

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[2] The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain [J].

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[3] X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein [J].

Kere, J ;

Srivastava, AK ;

Montonen, O ;

Zonana, J ;

Thomas, N ;

Ferguson, B ;

Munoz, F ;

Morgan, D ;

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[4]

MCKSICK VA, 1994, MENDELIAN INHERITANC

[5] Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations [J].

Monreal, AW ;

Zonana, J ;

Ferguson, B .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (02) :380-389

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