A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome

被引：21

作者：

Aguirre, LA

del Castillo, I

Macaya, A

Medá, C

Villamar, M

Moreno-Pelayo, MA

Moreno, F

机构：

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

[2] Hosp Materno Infantil Vall dHebron, Secc Neurol Infantil, Barcelona, Spain

[3] Hosp Santa Creu & Sant Pau, Serv ORL, Barcelona, Spain

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 04期

关键词：

D O I：

10.1002/ajmg.a.31079

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：392 / 397

页数：6

共 27 条

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