High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients

High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients

Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic intervention in medical genetics due to the existence of effective enzyme replacement therapy. We report here the analysis of GD in 262 unrelated...

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Bibliographic Details
Main Authors: R. Rozenberg, F.T. Araújo, D.C. Fox, P. Aranda, A. Nonino, C. Micheletti, A.M. Martins, R. Cravo, E. Sobreira, L.V. Pereira
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2006-09-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
Gaucher disease
GBA gene
Allele dose-effect
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900004

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900004

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