Detection of Fabry's disease heterozy. gotes by enzyme analysis in single fibroblasts after cell sorting
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1983.tb01874.x/fullpdf
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3. Relationship between biochemical and clinical features in an English Anderson-Fabry family;Hamers;Acta med. scand.,1979
4. Enzyme assays at the single cell level using a new type of microfluorimeter;Jongkind;Histochemistry,1974
5. Nonselective Isolation of Fibroblast Heterokaryons, Hybrids, and Cybrids by Flow Sorting
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2. X-chromosome inactivation: role in skin disease expression;Acta Paediatrica;2007-01-02
3. Fabry disease: Comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG);American Journal of Medical Genetics;1999-06-11
4. Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A gene;Human Mutation;1994
5. Assessment of lysosomal function by quantitative histochemical and cytochemical methods;The Histochemical Journal;1991-10
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