A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis-Reference-Cited by-同舟云学术

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

Published:2003-04-23 Issue:2 Volume:113 Page:118-122
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Haut Sandrine,Brivet Michèle,Touati Guy,Rustin Pierre,Lebon Sophie,Garcia-Cazorla Angela,Saudubray Jean Marie,Boutron Audrey,Legrand Alain,Slama Abdelhamid

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-003-0946-0.pdf

Reference32 articles.

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4. Andreu AL, Checcarelli N, Iwara S, Shanske S, DiMauro S (2000) A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr Res 48:311–314

5. Benit P, Chretien D, Kadhom N, Lonlay-Debeney P de, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A (2001) Large-scale deletion and point mutations of nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 68:1344–1352

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