Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients

被引：16

作者：

Alvarez, A

del Castillo, I

Pera, A

Villamar, M

Moreno-Pelayo, MA

Rivera, T

Solanellas, J

Moreno, F

机构：

[1] Hosp Ramon y Cajal, Unidad Genet Mol, E-28034 Madrid, Spain

[2] Hosp Univ Principe Asturias, Serv ORL, Madrid, Spain

[3] Hosp Univ Nuestra Senora Valme, Serv ORL, Seville, Spain

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 08期

关键词：

D O I：

10.1136/jmg.40.8.636

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：636 / 639

页数：4

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