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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 2
1979 3
1980 1
1981 7
1982 3
1984 2
1985 1
1986 2
1987 2
1988 2
1989 7
1990 7
1991 10
1992 11
1993 13
1994 1
1995 1
1996 4
1997 2
1998 7
1999 3
2000 3
2001 9
2002 4
2003 4
2004 4
2005 3
2024 0

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PubMed (OMIM) for id: 374101

118 results

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Page 1
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.
Bénit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rötig A. Bénit P, et al. Hum Genet. 2003 May;112(5-6):563-6. doi: 10.1007/s00439-002-0884-2. Epub 2003 Mar 4. Hum Genet. 2003. PMID: 12616398
118 results