Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany.

doi:10.1007/s004390050454

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Article

Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany.

Human genetics - 1 Jun 1997

le Coutre P, Demina A, Beutler E, Beck M, Petrides P E

Abstract excerpt

Gaucher disease is the most common lysosomal storage disease with a high prevalence in the Ashkenazi Jewish population but it is also present in other populations. The presence of eight mutations (1226G, 1448C, IVS2+1. 84GG, 1504T, 1604T, 1342C and 1297T) and the complete deletion of the beta-glu...

Topics

Adolescent
Adult
Alleles
Child
Child, Preschool
Female
Gaucher Disease
Gene Deletion
Genotype
Germany
Humans
Male
Middle Aged
Mutation
Phenotype
Polymorphism, Restriction Fragment Length

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