A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads

被引：18

作者：

Akiyama, Masashi ^{[1
]}

Sakai, Kaori

Arita, Ken

Nomura, Yukiko

Ito, Kei

Kodama, Kazuo

McMillan, James R.

Kobayashi, Kinuko

Sawamura, Daisuke

Shimizu, Hiroshi

机构：

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

[2] Kobayashi Skin Clin, Sapporo, Hokkaido, Japan

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2007年 / 127卷 / 06期

关键词：

D O I：

10.1038/sj.jid.5700711

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：1540 / 1543

页数：4

共 19 条

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