Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.

doi:10.1002/ajmg.1320360419

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Article

Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.

American journal of medical genetics - 1 Aug 1990

Kolodny E H, Firon N, Eyal N, Horowitz M

Abstract excerpt

Seven members of an Ashkenazi Jewish family with Gaucher disease in 3 successive generations were tested for the presence of the 2 common mutations known to occur in the glucocerebrosidase gene. Genomic DNA from blood or skin fibroblasts of relatives was amplified by using the PCR technique and i...

Topics

Adult
Aged
Base Sequence
Child
DNA Mutational Analysis
Female
Gaucher Disease
Glucosylceramidase
Homozygote
Humans
Jews
Male
Middle Aged
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Pedigree
Polymerase Chain Reaction

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