Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.

doi:10.1136/jmg.30.4.280

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Article

Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations.

Journal of medical genetics - 1 Apr 1993

Walley A J, Barth M L, Ellis I, Fensom A H, Harris A

Abstract excerpt

Twenty-six patients with Gaucher's disease diagnosed in the United Kingdom and two obligate carriers, all of non-Jewish origin, were screened for the two common disease causing mutations and two rarer mutations in the glucocerebrosidase gene. These mutations are referred to as N370S, L444P, Ins84...

Topics

Alleles
Base Sequence
DNA
DNA Mutational Analysis
Gaucher Disease
Gene Frequency
Glucosylceramidase
Humans
Molecular Sequence Data
Polymerase Chain Reaction
United Kingdom

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