doi: 10.1126/science.170.3954.180.
Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease
- PMID: 5466114
- DOI: 10.1126/science.170.3954.180
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Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease
Science.
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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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