Digenic Inheritance in Epidermolysis Bullosa Simplex

被引：13
|
作者：
Padalon-Brauch, Gilly [1 ]
Ben Amitai, Dani [2 ]
Vodo, Dan [1 ]
Harel, Avikam [3 ]
Sarig, Ofer [1 ]
Sprecher, Eli [1 ,4 ]
Mashiah, Jacob [1 ,3 ]
机构：
[1] Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Dept Dermatol, IL-69978 Tel Aviv, Israel
[2] Schneider Childrens Hosp, Pediat Dermatol Unit, Petah Tiqwa, Israel
[3] Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Pediat Dermatol Unit, IL-69978 Tel Aviv, Israel
[4] Tel Aviv Univ, Sackler Fac Med, Dept Human Mol Genet & Biochem, Ramat Aviv, Israel
来源：
JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2012年 / 132卷 / 12期
关键词：
AMINO-ACID SUBSTITUTIONS; KRT14; GENES; MUTATIONS; KERATIN-5; FRAGILITY; AMPLIFICATION; FRAMESHIFT; RECURRENT; DOMAIN; CODON;
D O I：
10.1038/jid.2012.229
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：2852 / 2854
页数：3
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