Article
The GBA p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies.
Clinical genetics - 1 Oct 2018
Ruskey J A, Zhou S, Santiago R, Franche L-A, Alam A, Roncière L, Spiegelman D, Fon E A, Trempe J-F, Kalia L V, Postuma R B, Dupre N, Rivard G-E, Assouline S, Amato D, Gan-Or Z
Abstract excerpt
Biallelic GBA mutations cause Gaucher disease (GD), and heterozygous carriers are at risk for synucleinopathies. No founder GBA mutations in French-Canadians are known. GBA was fully sequenced using targeted next generation and Sanger sequencing in French-Canadian Parkinson disease (PD) patients (n = 436), rapid eye movement (REM)-sleep behavior disorder (RBD) patients (n = 189) and controls (n = 891). Haplotype,...
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