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

Giovanni Romeo, Barbara R 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
StatePublished - 1970

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Galactosidases
Fabry Disease
Fibroblasts
Siblings
Leukocytes
Mothers
Skin
Enzymes
Population

ASJC Scopus subject areas

  • General

Cite this

Genetic inactivation of the α-galactosidase locus in carriers of fabry's disease. / Romeo, Giovanni; Migeon, Barbara R.

In: Science, Vol. 170, No. 3954, 1970, p. 180-181.

Research output: Contribution to journalArticle

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