A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.

doi:10.1002/(SICI)1098-1004(1996)8:1<38::AID-HUMU5>3.0.CO;2-L

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Article

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.

Human mutation - 1 Jan 1996

Blanch L C, Meaney C, Morris C P

Abstract excerpt

Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of alpha-galactosidase A (alpha-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote...

Topics

Adult
Child
Fabry Disease
Genetic Linkage
Humans
Male
Middle Aged
Mutation
X Chromosome
alpha-Galactosidase

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