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Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: Pitfalls of mutation analyses in patients with low α-galactosidase A activity

✍ Scribed by Makoto Yoshimitsu; Koji Higuchi; Masaaki Miyata; Sean Devine; Andre Mattman; Sandra Sirrs; Jeffrey A. Medin; Chuwa Tei; Toshihiro Takenaka


Book ID
113720303
Publisher
Elsevier
Year
2011
Tongue
Japanese
Weight
595 KB
Volume
57
Category
Article
ISSN
0914-5087

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Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge