Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease

Early-onset Parkinson’s disease (EOPD) is usually caused by genetic variants and patients with EOPD develop symptoms before the age of 50, accounting for 5% Parkinson’s disease (PD). Here we present a Chinese Han pedigree with clinical features of EOPD. To determine the diagnosis and pathogenic muta...

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Detalles Bibliográficos
Autores principales: Li, Tianbai, Kou, Daqing, Cui, Yanhua, Le, Weidong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2020
Materias:
Aging
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7240198/
https://www.ncbi.nlm.nih.gov/pubmed/32391545
http://dx.doi.org/10.1042/BSR20200534

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