## Deficiency of arylsulfatase A (ARSA) enzyme activity causes metachromatic leukodystrophy (MLD). A number of ARSA gene mutations responsible for MLD have been identified. Recently, the R496H mutation of ARSA was proposed to be a cause of MLD (Draghia et al., 1997). We have investigated the R496H
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Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation
✍ Scribed by Laura Gort; M. Josep Coll; Amparo Chabás
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 12 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1059-7794
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