Molecular characterization of PRKN structural variations identified through whole‐genome sequencing

BACKGROUND: Early‐onset Parkinson's disease (PD) is the most common inherited form of parkinsonism, with the PRKN gene being the most frequently identified mutated. Exon rearrangements, identified in about 43.2% of the reported PD patients and with higher frequency in specific ethnicities, are...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Bravo, Paloma, Darvish, Hossein, Tafakhori, Abbas, Azcona, Luis J., Johari, Amir Hossein, Jamali, Faezeh, Paisán‐Ruiz, Coro
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305656/
https://ncbi.nlm.nih.gov/pubmed/30328284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.482
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