De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

被引：22

作者：

Alvarez, A

del Castillo, I

Pera, A

Villamar, M

Moreno-Pelayo, MA

Moreno, F

Moreno, R

Tapia, MC

机构：

[1] Hosp Ramon & Cajal, Unidad Genet Mol, Madrid 28034, Spain

[2] Hosp Ramon & Cajal, Dermatol Serv, E-28034 Madrid, Spain

[3] Hosp Clin San Carlos Pabellon, Serv ORL, E-28034 Madrid, Spain

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 117A卷 / 01期

关键词：

D O I：

10.1002/ajmg.a.10851

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：89 / 91

页数：3

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