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Molecular pathology of Fabry's disease physical and kinetic properties of α-galactosidase a in cultured human endothelial cells

✍ Scribed by JOHNSON, D; DESNICK, R


Book ID
123438265
Publisher
Elsevier Science
Year
1978
Tongue
English
Weight
691 KB
Volume
538
Category
Article
ISSN
0304-4165

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Molecular basis of fabry disease: Mutati
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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