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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

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Description scientific article (publication date: May 2003)
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author: Agnès Rötig  Alice Goldenberg  Pierre Rustin  Arnold Munnich  Dominique Chrétien  Paule Bénit 

Publication date May 2003
Language English
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