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Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease

✍ Scribed by Duro, Giovanni; Musumeci, M. Beatrice; Colomba, Paolo; Zizzo, Carmela; Albeggiani, Giuseppe; Mastromarino, Vittoria; Volpe, Massimo; Autore, Camillo

Book ID
122185189
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
753 KB
Volume
535
Category
Article
ISSN
0378-1119

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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