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...

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Detalles Bibliográficos
Autores principales: Gao, Yujing, Wilson, Gabrielle R., Salce, Nicholas, Romano, Alexandra, Mellick, George D., Stephenson, Sarah E. M., Lockhart, Paul J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
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

Internet

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

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