Article
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
Human mutation - 1 Jan 1996
Kim J W, Liou B B, Lai M Y, Ponce E, Grabowski G A
Abstract excerpt
Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid beta-glucosidase. Over 40 missense, nonsense, and more complex alleles have been described, primarily in Western populations. From these results, predictive genotype/phenotype correlations have been developed and used to guide genetic counseling and therapy. Only a few mutations have been...
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