Application of a comprehensive protocol for the identification of Gaucher disease in Brazil
β Scribed by Kristiane Michelin; Alessandro Wajner; Fernanda T.S. de Souza; Alexandre S. de Mello; Maira G. Burin; Maria Luiza S. Pereira; Ricardo F. Pires; Roberto Giugliani; Janice C. Coelho
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 127 KB
- Volume
- 136A
- Category
- Article
- ISSN
- 1552-4825
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Gaucher Disease type 1, the most prevalent lysosomal disease among Caucasians, is due to defects in the activity of acid fl-glucosidase. Over 40 missense, nonsense, and more complex alleles have been described, primarily in Western populations. From these results, predictive genotype/phenotype corre
Conditional multivariate normal denaity function8 am used t o conatruot conditional quadratic discriminant funotione that adjust for covariate diffemncea between dieeese groupe. An expeoted actual error rate for the conditional diaoriminant funotion is defined. The purpoee of this paper is to use th