Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency-Reference-Cited by-同舟云学术

Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

Published:2001-06 Issue:6 Volume:68 Page:1344-1352
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Bénit Paule,Chretien Dominique,Kadhom Nohman,de Lonlay-Debeney Pascale,Cormier-Daire Valérie,Cabral Aguinaldo,Peudenier Sylviane,Rustin Pierre,Munnich Arnold,Rötig Agnès

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A);Allikmets;Hum Mol Genet,1999

2. Amiel J, Gigarel N, Benacki A, Bénit P, Valnot I, Parfait B, von Kleist-Retzow JC, Raclin V, Hadj-Rabia S, Dumez Y, Rustin P, Bonnefont JP, Munnich A, Rötig A. Prenatal diagnosis of respiratory chain deficiency by direct mutation screening. Prenatal Diagnosis (in press)

3. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996

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

5. A comprehensive genetic map of the human genome based on 5,264 microsatellites;Dib;Nature,1996

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