Article
Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.
Biochemical medicine and metabolic biology - 1 Feb 1993
Amaral O, Lacerda L, Santos R, Pinto R A, Aerts H, Sa Miranda M C
Abstract excerpt
We report the study of 16 catholic type 1 Gaucher disease patients originating from a well-defined region in the north of Portugal where a relatively high incidence is observed. The patients were screened for mutations: 3060G-->A, 5841A-->G, 5976C-->G, and 6433T-->C, which enabled the identification of 27 of the 32 mutated alleles. Four different genotypes were identified, namely 5841G/6433C (n = 6), 5841G/5841G...
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