Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis-Reference-Cited by-同舟云学术

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Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

Published:2013-01-20 Issue:1 Volume:14 Page:85-87
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Lal Dennis,Becker Kerstin,Motameny Susanne,Altmüller Janine,Thiele Holger,Nürnberg Peter,Ahting Uwe,Rolinski Boris,Neubauer Bernd A.,Hahn Andreas

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-013-0355-z.pdf

Reference6 articles.

1. Straussberg R, Shorer Z, Weitz R et al (2002) Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. Neurology 59:983–989

2. Spiegel R, Shaag A, Edvardson S et al (2009) SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. Ann Neurol 66:419–424

3. Li H, Handsaker B, Wysoker A et al (2009) The sequence alignment/map format and SAMtools. Bioinformatics 25:2078–2079

4. Li H, Ruan J, Durbin R (2008) Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 18:1851–1858

5. Bénit P, Chretien D, Kadhom N et al (2001) Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet 68:1344–1352

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