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Science 9 October 1970:
Vol. 170. no. 3954, pp. 180 - 181
DOI: 10.1126/science.170.3954.180
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Articles

Genetic Inactivation of the agr-Galactosidase Locus in Carriers of Fabry's Disease

Giovanni Romeo 1 and Barbara Ruben Migeon 1

1 Department of Pediatrics, Johns Hopkins University School of Medicine, and Harriet Lane Service of the Johns Hopkins Children's Medical and Surgical Center, Baltimore, Maryland

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


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Prevalence of Fabry Disease in Female Patients With Late-Onset Hypertrophic Cardiomyopathy.
C. Chimenti, M. Pieroni, E. Morgante, D. Antuzzi, A. Russo, M. A. Russo, A. Maseri, and A. Frustaci (2004)
Circulation 110, 1047-1053
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Non-inactivation of an x-chromosome locus in man.
L. Shapiro, T Mohandas, R Weiss, and G Romeo (1979)
Science 204, 1224-1226
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Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X chromosome.
M. Becker, R. Yen, P Itkin, S. Goss, J. Seegmiller, and B Bakay (1979)
Science 203, 1016-1019
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The Treatment of Genetic Disorders.
S. A. Muller (1975)
Arch Dermatol 111, 1620-1624
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Reversal of an Inborn Sphingolipidosis (Fabry's Disease) by Kidney Transplantation.
M. PHILIPPART, S. S. FRANKLIN, and A. GORDON (1972)
Ann Intern Med 77, 195-200
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Human Phosphoglycerate Kinase and Inactivation of the X Chromosome.
B. F. Deys, K. H. Grzeschick, A. Grzeschick, E. R. Jaffe, and M. Siniscalco (1972)
Science 175, 1002-1003
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Macular Cherry-Red Spot, Corneal Clouding, and {beta}-Galactosidase Deficiency: Clinical, Biochemical, and Electron Microscopic Study of a New Autosomal Recessive Storage Disease.
M. F. Goldberg, E. Cotlier, L. G. Fichenscher, K. Kenyon, R. Enat, and S. A. Borowsky (1971)
Arch Intern Med 128, 387-398
   Abstract »    PDF »
Fabry's Disease: Antenatal Detection.
R. O. Brady, B. W. Uhlendorf, and C. B. Jacobson (1971)
Science 172, 174-175
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