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 identificat...
Topics
- Adolescent
- Adult
- Aged
- Alleles
- Base Sequence
- Child
- Child, Preschool
- Female
- Gaucher Disease
- Genotype
- Glucosylceramidase
- Humans
- Hydrogen-Ion Concentration
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation