Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy-Reference-Cited by-同舟云学术

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

Published:2003-04-24 Issue:6 Volume:21 Page:582-586
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Bénit Paule,Beugnot Réjane,Chretien Dominique,Giurgea Irina,De Lonlay-Debeney Pascale,Issartel Jean-Paul,Corral-Debrinski Marisol,Kerscher Stefan,Rustin Pierre,Rötig Agnès,Munnich Arnold

Funder

Association Française contre les Myopathies; the Association contre les Maladies Mitochondriales

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency;Bénit;Am J Hum Genet,2001

2. Isolation and characterization of mitochondria from human B lymphoblastoid cell lines;Bourgeron;Biochem Biophys Res Commun,1992

3. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene;Budde;Biochem Biophys Res Commun,2000

4. Comprehensive scanning of the ATM gene with DOVAM-S;Buzin;Hum Mutat,2003

5. A non-radioactive double detection method for the assignment of spots in two dimensional blots;Chevallet;Ann Biochem,1997

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