Genomic analysis of Brazilian patients with Fabry disease

Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary...

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Bibliographic Details
Main Authors: F.S. Pereira, L.B. Jardim, C.B. Netto, M.G. Burin, C. Cecchin, R. Giugliani, U.S. Matte
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2007-12-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007001200002