Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

被引：13

作者：

Akiyama, M. ^{[1
]}

Sakai, K. ^{[1
]}

Hatamochi, A. ^{[2
]}

Yamazaki, S. ^{[2
]}

Mcmillan, J. R. ^{[1
]}

Shimizu, H. ^{[1
]}

机构：

[1] Hokkaido Univ, Dept Dermatol, Grad Sch Med, Kita Ku, Sapporo, Hokkaido 0608638, Japan

[2] Dokkyo Univ, Sch Med, Dept Dermatol, Tochigi, Japan

来源：

BRITISH JOURNAL OF DERMATOLOGY | 2008年 / 158卷 / 04期

关键词：

ATP-binding cassette transporter; barrier function; ichthyosis; lipid;

D O I：

10.1111/j.1365-2133.2008.08439.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：864 / 867

页数：5

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