Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

doi:10.1212/wnl.46.4.1102

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Article

Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

Neurology - 1 Apr 1996

Seeman P J, Finckh U, Höppner J, Lakner V, Liebisch I, Grau G, Rolfs A

Abstract excerpt

Gaucher disease is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme glucocerebrosidase. The prevalence of this disorder differs significantly among various populations and is highest in some Jewish populations. More than 35 disease-producing mutations of the...

Topics

Adult
Base Sequence
DNA
Exons
Gaucher Disease
Glucosylceramidase
Humans
Jews
Male
Molecular Probes
Molecular Sequence Data
Mutation
Pedigree
Polymerase Chain Reaction
White People

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