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Role of Ser-65 in the Activity of α-Galactosidase A: Characterization of a Point Mutation (S65T) Detected in a Patient with Fabry Disease

✍ Scribed by Satoshi Ishii; Yoshiyuki Suzuki; Jian-Qiang Fan

Book ID
115568150
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
201 KB
Volume
377
Category
Article
ISSN
0003-9861

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Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev