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
Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese
✍ Scribed by Olga Amaral; Eugénia Pinto; Margarida Fortuna; Lucia Lacerda; M.C. Sá Miranda
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 178 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1059-7794
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