Fabry's disease: Heterozygote detection by hair root analysis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00295824.pdf
Reference13 articles.
1. Albertini, R. J., De Mars, R.: Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation. Biochem. Genet. 11, 397 (1974)
2. Crawhall, J. C., Bangalvi, M.: Fabry's disease: differentiation between two forms of ?-galactosidase by myoinositol. Science 177, 527 (1972)
3. Davidson, R. G., Nitowsky, M. M., Childs, B.: Demonstration of two populations of cells in the human female heterozygotes for glucose-6-phosphate dehydrogenase variants. Proc. nat. Acad. Sci. (Wash.) 50, 481 (1963)
4. Galjaard, H., Niermeijer, M. F., Hahnemann, N., Mohr, J., Sørensen, S. A.: An example of rapid prenatal diagnosis of Fabry's disease using microtechniques. Clin. Genet. 5, 368?377 (1974)
5. Gartler, S. M., Gandini, E., Angioni, G., Argiolas, N.: Glucose-6-phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells. Ann. hum. Genet. 33, 171 (1969)
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2. Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy;Clinical Genetics;2008-04-23
3. Heterozygote detection in glucose-6-phosphate dehydrogenase deficiency: limitation of hair follicle analysis;Clinical Genetics;2008-04-23
4. Detection of Fabry's disease heterozygotes by hair root analysis;Clinical Genetics;2008-04-23
5. Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene;Human Mutation;1994
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