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The molecular basis of pharmacological chaperoning in human alpha-galactosidase

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


Book ID
123445886
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
202 KB
Volume
108
Category
Article
ISSN
1096-7192

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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