Relationship Between Biochemical and Clinical Features in an English Anderson-Fabry Family
Author:
Publisher
Wiley
Subject
Internal Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.0954-6820.1979.tb13460.x/fullpdf
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1. Inactivation of One of the X Chromosomes in Females Is a Biological Phenomenon of Clinical Importance;Acta Medica Scandinavica;2009-04-24
2. Chapter 3 Biochemical Basis of Fabry Disease with Emphasis on Mitochondrial Function and Protein Trafficking;Advances in Clinical Chemistry;2009
3. Detection of Fabry's disease heterozy. gotes by enzyme analysis in single fibroblasts after cell sorting;Clinical Genetics;2008-04-23
4. Different phenotypic expression in relatives with Fabry disease caused by a W226X mutation;American Journal of Medical Genetics;1999-02-19
5. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.;Journal of Medical Genetics;1996-08-01
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