Article
[Fabry disease: data from four families].
Nederlands tijdschrift voor geneeskunde - 9 Dec 2000
Slee P H, van Boven L J, Slee D S
Abstract excerpt
In 1988 three families were described in this journal with Fabry's disease, an X-linked recessive lysosomal storage disorder caused by the deficiency of alpha-galactosidase A. A fourth family contained four affected men of whom one was unavailable for evaluation. The other three had the same mutation in de alpha-galactosidase gene, notably Gln386Stop, leading to the change of a glutamine codon into a stop codon....
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