Article
Parkinson disease: α-synuclein mutational screening and new clinical insight into the p.E46K mutation.
Parkinsonism & related disorders - 1 Jun 2015
Pimentel Márcia M G, Rodrigues Fabíola C, Leite Marco Antônio A, Campos Júnior Mário, Rosso Ana Lucia, Nicaretta Denise H, Pereira João S, Silva Delson José, Della Coletta Marcus V, Vasconcellos Luiz Felipe R, Abreu Gabriella M, Dos Santos Jussara M, Santos-Rebouças Cíntia B
Abstract excerpt
BACKGROUND: Amongst Parkinson's disease-causing genetic factors, missense mutations and genomic multiplications in the gene encoding α-synuclein are well established causes of the disease, although genetic data in populations with a high degree of admixture, such as the Brazilian one, are still scarce. METHODS: In this study, we conducted a molecular screening of α-synuclein point mutations and copy number...
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