Article
High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Sept 2006
Rozenberg R, Araújo F T, Fox D C, Aranda P, Nonino A, Micheletti C, Martins A M, Cravo R, Sobreira E, Pereira L V
Abstract excerpt
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 Brazilian patients, carried out in order to establish the frequency of the most common mutations and to provide...
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