Genetic inactivation of the α-galactosidase locus in carriers of fabry's disease

Giovanni Romeo, Barbara Ruben Migeon

Research output: Contribution to journalArticle

Abstract

Skin fibroblasts from a patient with Fabry's disease showed deficient activity of α-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 α-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.

Original languageEnglish (US)
Pages (from-to)180-181
Number of pages2
JournalScience
Volume170
Issue number3954
DOIs
StatePublished - Jan 1 1970

ASJC Scopus subject areas

  • General

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