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| Rozenberg,R.; Araújo,F.T.; Fox,D.C.; Aranda,P.; Nonino,A.; Micheletti,C.; Martins,A.M.; Cravo,R.; Sobreira,E.; Pereira,L.V.. |
| 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 prognostic information based on genotype-phenotype correlations. Among 247 type 1 GD patients, mutation N370S was detected in 47% of all the alleles, but N370S/N370S homozygosity was found in only 10% of the patients, a much lower frequency than expected, suggesting that most individuals presenting this genotype may not receive medical attention.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gaucher disease; GBA gene; Allele dose-effect. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900004 |
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