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.
作者信息
Aguirre Luis A, del Castillo Ignacio, Macaya Alfons, Medá Carme, Villamar Manuela, Moreno-Pelayo Miguel A, Moreno Felipe
出版信息
Am J Med Genet A. 2006 Feb 15;140(4):392-7. doi: 10.1002/ajmg.a.31079.
PMID:16411215
Abstract
摘要
Zotero 插件