eOPA1: An online database forOPA1mutations-Reference-Cited by-同舟云学术

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eOPA1: An online database forOPA1mutations

Published:2005-04-14 Issue:5 Volume:25 Page:423-428
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Ferré Marc,Amati-Bonneau Patrizia,Tourmen Yves,Malthièry Yves,Reynier Pascal

Funder

INSERM

GIS-Institut des Maladies Rares

University Hospital of Angers, University of Angers, Angers, France

Retina France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000

2. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene;Amati-Bonneau;Am J Ophthalmol,2003

3. Recommendations for a nomenclature system for human gene mutations;Antonarakis;Hum Mutat,1998

4. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy;Baris;Hum Mutat,2003

5. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy;Delettre;Nat Genet,2000

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