Case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation

被引：5

作者：

Hattori, N. ^{[1
]}

Komine, M.

Kaneko, T.

Shimazu, K.

Tsunemi, Y.

Koizumi, M.

Goto, J.

Hashimoto, T.

机构：

[1] Fratern Mem Hosp, Dept Dermatol, Tokyo, Japan

[2] Toshiba Hosp, Dept Dermatol, Tokyo, Japan

[3] Univ Tokyo, Dept Dermatol, Grad Sch Med, Tokyo, Japan

[4] Univ Tokyo, Dept Neurol, Grad Sch Med, Tokyo, Japan

[5] Kurume Univ, Sch Med, Dept Dermatol, Fukuoka, Japan

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 155卷 / 05期

关键词：

epidermolysis bullosa simplex; keratin; 14; 5; polymorphism;

D O I：

10.1111/j.1365-2133.2006.07425.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

[No abstract available]

引用

页码：1062 / 1063

页数：2

共 6 条

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[6] Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly [J].

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