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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...
Gorde:
| Argitaratua izan da: | Front Neurol |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Frontiers Media S.A.
2020
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| Gaiak: | |
| Sarrera elektronikoa: | 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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