Article
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).
American journal of medical genetics - 11 Jun 1999
Ashton-Prolla P, Ashley G A, Giugliani R, Pires R F, Desnick R J, Eng C M
Abstract excerpt
Fabry disease (FD) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). Affected males are reliably diagnosed by demonstration of deficient alpha-Gal A activity in plasma or leukocytes. However, identification of female carriers is problematic due to Lyonization, requiring mutation identification and/or linkage studies for accurate carrier...
Topics
- Base Sequence
- DNA Mutational Analysis
- Fabry Disease
- Female
- Genetic Carrier Screening
- Genetic Linkage
- Genotype
- Haplotypes
- Humans
- Male
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
- Tandem Repeat Sequences