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Relationship of the multiple forms of human α-d-galactosidase and α-d-fucosidase in the normal and in Fabry's disease

✍ Scribed by Elena Beyer; Natalja Schono; Inna Kozlova; German Wiederschain

Book ID
113268046
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
391 KB
Volume
1038
Category
Article
ISSN
0167-4838

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✍ Christine M. Eng; Robert J. Desnick 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 884 KB

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