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Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort
Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked early-onset parkinsonism. The gene is located within a chromosomal region that is susceptible to genomic rearrangement, and while an increased dosage of RAB39B was previous...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332711/ https://www.ncbi.nlm.nih.gov/pubmed/32670181 http://dx.doi.org/10.3389/fneur.2020.00523 |