Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

• Autor(es): Brás, José ; Paisan-Ruiz, Coro ; Guerreiro, Rita ; Ribeiro, Maria Helena ; Morgadinho, Ana ; Januário, Cristina ; Sidransky, Ellen ; Oliveira, Catarina ; Singleton, Andrew
• Data: 2008
• Identificador Persistente: https://hdl.handle.net/10316/4694
• Origem: Estudo Geral - Universidade de Coimbra
• Assunto(s): Case control study; Genetic association; Parkinson disease
• Tipo de Documento: Artigo científico
• Idioma: Inglês

Descrição

Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease.

http://www.sciencedirect.com/science/article/B6T09-4RDB8NT-4/1/f950a1008e7a0869f9c1b72f485255a4