Science. 1970 Oct 9;170(3954):180-1.

Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.

Abstract

Skin fibroblasts from a patient with Fabry's disease showed deficient activity of alpha-galactosidase. Fibroblasts from his mother and sister had two distinct clonal populations, one with enzymatic activity and the other enzyme deficient. This provides evidence of genetic inactivation at the alpha-galactosidase locus and makes possible the detection of carriers of Fabry's disease even when the enzymatic activity in their leukocytes and uncloned fibroblasts is within the range of controls.

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Fabry's disease: differentiation between two forms of -galactosidase by myoinositol. [Science. 1972]
Fabry's disease: differentiation between two forms of -galactosidase by myoinositol.
Crawhall JC, Banfalvi M. Science. 1972 Aug 11; 177(4048):527-8.
Fabry's disease: antenatal detection. [Science. 1971]
Fabry's disease: antenatal detection.
Brady RO, Uhlendorf BW, Jacobson CB. Science. 1971 Apr 9; 172(3979):174-5.
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Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.

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