Analysis of splice-site mutations of the α-galactosidase A gene in Fabry disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2003.00077.x/fullpdf
Reference27 articles.
1. Enzymatic defect in Fabry's disease: ceremide trihexosidase deficiency;Brady;N Engl J Med,1967
2. Biochemical and molecular genetic basis of Fabry disease: diagnostic and counseling issues;Pastores;J Am Soc Nephrol,2002
3. Construction of a novel database containing aberrant splicing mutations of mammalian genes;Nakai;Gene,1994
4. The regulation of splice-site selection and its role in human disease;Cooper;Am J Hum Genet,1997
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