Article
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
Human mutation - 1 Apr 2002
Orvisky E, Park J K, Parker A, Walker J M, Martin B M, Stubblefield B K, Uyama E, Tayebi N, Sidransky E
Abstract excerpt
Mutations in the gene encoding for the lysosomal enzyme glucocerebrosidase (GBA) result in Gaucher disease. In this study, seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2T-->A) were identified by direct sequencing of three amplified segments of the glucocerebrosidase gene. Five of the novel mutations were found...
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