Article
Fabry disease: 20 novel GLA mutations in 35 families.
Human mutation - 1 Nov 2001
Blaydon D, Hill J, Winchester B
Abstract excerpt
Thirty two mutations have been found in 35 unrelated patients of European origin with Fabry disease, including 8 females. Twenty of the mutations are novel and comprise of 13 missense: H46Y, W47G, R49P, C94S, F113S, G258R, P259R, Q279H, Q280H, R363H, A377D, P409A, P409T; 1 nonsense: L294X; 5 small deletions: 154delT, 520delT, 909-918del10, 1152-1153delCA, 1235-1236delCT and 1 splice site mutation: IVS5+2t-->c....
Topics
- DNA Mutational Analysis
- Europe
- Fabry Disease
- Female
- Genotype
- Humans
- Male
- Mutation
- Phenotype
- Polymorphism, Single-Stranded Conformational
- alpha-Galactosidase