Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2001.600107.x/fullpdf
Reference31 articles.
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2. Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease;Lemansky;J Biol Chem,1987
3. Overexpression of human α-galactosidase A results in its crystallization in lysosomes and selective secretions;Ioannou;J Cell Biol,1992
4. Cardiac valvular abnormalities in Fabry's disease: clinical, morphologic and biochemical studies;Desnick;Circulation,1976
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