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

Item Type:Letter
Title:Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis
Creators Name:Lal, D., Becker, K., Motameny, S., Altmüller, J., Thiele, H., Nürnberg, P., Ahting, U., Rolinski, B., Neubauer, B.A. and Hahn, A.
Keywords:Electron Transport Complex I, Genetic Predisposition to Disease, Homozygote, Missense Mutation, NADH Dehydrogenase, Pedigree, Siblings, Striatonigral Degeneration
Source:Neurogenetics
ISSN:1364-6745
Publisher:Springer
Volume:14
Number:1
Page Range:85-87
Date:February 2013
Official Publication:https://doi.org/10.1007/s10048-013-0355-z
PubMed:View item in PubMed

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