Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome-Reference-Cited by-同舟云学术

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome

Published:2003-03-04 Issue:5-6 Volume:112 Page:563-566
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Bénit Paule,Steffann Julie,Lebon Sophie,Chretien Dominique,Kadhom Noman,de Lonlay Pascale,Goldenberg Alice,Dumez Yves,Dommergues Marc,Rustin Pierre,Munnich Arnold,Rötig Agnès

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-002-0884-2.pdf

Reference18 articles.

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2. Budde SM, Heuvel LP van den, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Coster R van, Baethmann M, Voit T, Trijbels JM, Smeitink JA (2000) Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun 275:63–68

3. Dunnen JT den, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121–124

4. Fearnley IM, Walker JE (1992) Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins. Biochim Biophys Acta 1140:105–134

5. Heuvel L van den, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, Bruijn D de, Smeitink J (1998) Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet 62:262–268

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