Mutations in the gene encoding -glucocerebrosidase are the main cause of Gaucher disease. The identification of some of these mutations in prenatal tests is a good complement to enzymatic assay and allows diagnosis and, in some cases, prognosis of the disease to be made. DNA analysis is particularly
Gaucher disease: considerations in prenatal diagnosis
โ Scribed by Gregory A. Grabowski
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 46 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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