Article
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
American journal of human genetics - 1 Aug 1998
Germain D P, Puech J P, Caillaud C, Kahn A, Poenaru L
Abstract excerpt
Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and one of the rare genetic diseases now accessible to therapy. Outside the Ashkenazi Jewish community, a high molecular diversity is observed, leaving approximately 30% of alleles undetected. Nevertheless, very few exh...
Topics
- Adolescent
- Adult
- Aged
- Base Pairing
- Child
- Child, Preschool
- DNA Primers
- Exons
- Female
- Gaucher Disease
- Genetic Variation
- Glucosylceramidase
- Humans
- Introns
- Jews
- Male
- Middle Aged
- Mutation, Missense