1 | NDUFV1, NDUFV1D
|
| A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
|
| Vilain C, Rens C, Aeby A, Balériaux D, Van Bogaert P, Remiche G, Smet J, Van Coster R, Abramowicz M, Pirson I.
|
| Clin Genet 82(3):264-70. doi: 10.1111/j.1399-0004.2011.01743.x. Epub 2011 Jul 18.
2012
|
2 | NDUFV1, NDUFV1D
|
| Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.
|
| Laugel V, This-Bernd V, Cormier-Daire V, Speeg-Schatz C, de Saint-Martin A, Fischbach M.
|
| Pediatr Neurol 36(1):54-7. 2007
|
3 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
|
| Nuclear genetic defects of oxidative phosphorylation.
|
| Shoubridge EA.
|
| Hum Mol Genet 10(20):2277-84. Review. 2001
|
4 | NDUFA8, NDUFB6, NDUFS1, NDUFV1, NDUFV1D
|
| Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
|
| Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A.
|
| Am J Hum Genet 68(6):1344-52. Epub 2001 May 7. 2001
|
5 | NDUFV1
|
| The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I.
|
| de Coo RFM, et al.
|
| Mamm Genome 10(1):49-53. 1999
|
6 | NDUFV1, ALXD2
|
| Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
|
| Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stockler-Ipsiroglu S, van den Heuvel L.
|
| Nat Genet 21(3):260-1. No abstract available. 1999
|
7 | NDUFV1
|
| Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor : is this a link between mitochondrial myopathy and inflammation?
|
| Schuelke M, et al.
|
| Biochem Biophys Res Commun 245 : 599-606. 1998
|
8 | NDUFV1
|
| Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13.
|
| Ali ST, et al.
|
| Genomics 18 : 435-439. 1993
|
9 | NDUFV1
|
| The human mitochondrial NADH : ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13.
|
| Spencer SR, et al.
|
| Genomics 14 : 1116-1118. 1992
|