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The Molecular Basis of Pharmacological Chaperoning in Human α-Galactosidase

✍ Scribed by Abigail I. Guce; Nathaniel E. Clark; Jerome J. Rogich; Scott C. Garman

Book ID
113531162
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
689 KB
Volume
18
Category
Article
ISSN
1074-5521

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Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the a-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Fo