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-Reference-Cited by-同舟云学术

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

Published:2006-02-15 Issue:4 Volume:140A Page:392-397
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Aguirre Luis A.,del Castillo Ignacio,Macaya Alfons,Medá Carme,Villamar Manuela,Moreno-Pelayo Miguel A.,Moreno Felipe

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene

2. . 2005. Recommendations for the description of sequence variants. URL: http://www.hgvs.org/mutnomen/recs.html

3. A comprehensive genetic map of the human genome based on 5,264 microsatellites

4. A Novel Intronic Mutation in the DDP1 Gene in a Family With X-linked Dystonia-Deafness Syndrome

5. The C66W Mutation in the Deafness Dystonia Peptide 1 (DDP1) Affects the Formation of Functional DDP1·TIM13 Complexes in the Mitochondrial Intermembrane Space

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