Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

Article

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

American journal of human genetics - 1 Jun 1993

Sibille A, Eng C M, Kim S J, Pastores G, Grabowski G A

Abstract excerpt

Gaucher disease is the most frequent lysosomal storage disease and the most prevalent genetic disease among Ashkenazi Jews. Gaucher disease type 1 is characterized by marked variability of the phenotype and by the absence of neuronopathic involvement. To test the hypothesis that this phenotypic v...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Base Sequence
Bone and Bones
Child
Child, Preschool
DNA
Female
Gaucher Disease
Genotype
Hepatomegaly
Homozygote
Humans
Male
Middle Aged
Molecular Sequence Data

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