Item Type: | Letter |
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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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