Journal Article

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

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

Human Genetics · Vol. 112, Issue 5-6 · pp. 563-566 · 2003

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Bibliographic Information

Journal	Human Genetics
Publisher	Springer
Publication Date	2003-05-01
Publication Year	2003
Volume	112
Issue	5-6
Pages	563-566
Document Type	Journal Article
Print ISSN	0340-6717
eISSN	1432-1203
DOI	10.1007/s00439-002-0884-2

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NARA Access Coverage	1964-01-01~Current
Journal Homepage	https://www.springer.com/journal/439
Publisher Page	Open Publisher Page

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