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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.

Authors
Type
Published Article
Journal
Human genetics
Publication Date
Volume
112
Issue
5-6
Pages
563–566
Identifiers
PMID: 12616398
Source
Medline

Abstract

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