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
收藏
页码：89 / 91
页数：3
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