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Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease

✍ Scribed by Melinda Erdős; Krisztina Németh; Beáta Tóth; Tamás Constantin; Éva Rákóczi; Andrea Ponyi; Angéla Dajnoki; János Grubits; István Pintér; Ferencz Garzuly; Katalin Hahn; Krisztina Bencsik; László Vécsei; György Fekete; László Maródi


Book ID
116988412
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
283 KB
Volume
95
Category
Article
ISSN
1096-7192

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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