Article
Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.
Human mutation - 1 Jul 2005
Tang Nelson L S, Zhang Weimin, Grabowski G A, To K F, Choy Francis Y M, Ma S L, Shi H P
Abstract excerpt
We investigated 10 unrelated Chinese patients with type 2 Gaucher disease and performed ex vivo expression for the novel mutations to characterize their functional defects. These patients were diagnosed by enzymatic assays and clinicopathologic features over the past five years in a national centre in China. Genomic DNA was sequenced by a two-stage PCR approach for mutations in the functional GBA gene. Novel...
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