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Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency

In an unbiased genome-wide screen for copy number variants (CNVs) on a cohort of Parkinson's disease (PD) patients, we identified in one patient a complex chromosomal rearrangement involving the nucleotide binding protein-like (NUBPL) gene on chromosome 14q12. We noted that mutations in the NUB...

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Bibliografski detalji
Izdano u:Front Neurol
Glavni autori: Eis, Peggy S., Huang, Neng, Langston, J. William, Hatchwell, Eli, Schüle, Birgitt
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2020
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667465/
https://ncbi.nlm.nih.gov/pubmed/33224084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.555961
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