Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

<p>Abstract</p> <p>Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, α-galactosidase A (EC 3.2.1.22; α-Gal A). The molecular lesions in the <it>α-Gal A gene </it>cau...

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Bibliographic Details
Main Authors: Shabbeer Junaid, Yasuda Makiko, Benson Stacy D, Desnick Robert J
Format: Article
Language:English
Published: BMC 2006-03-01
Series:Human Genomics
Subjects:
Fabry disease
α-galactosidase A
α-Gal A
mutations
molecular modelling
transient expression
Online Access:http://www.humgenomics.com/content/2/5/297

Internet

http://www.humgenomics.com/content/2/5/297

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