Occurrence, distribution, and phenotype of arylsulfatase A (ASA) mutations were investigated in 27 patients with metachromatic leukodystrophy (MLD) from Central Europe, mainly from Austria (n = 15) and Poland (n = 9). Genomic DNA from leukocytes, fibroblasts, or paraffin-embedded, formalin-fixed bra
✦ LIBER ✦
Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients
✍ Scribed by Linda Berná; Volkmar Gieselmann; Helena Poupětová; Martin Hřebíček; Milan Elleder; Jana Ledvinová
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 75 KB
- Volume
- 129A
- Category
- Article
- ISSN
- 1552-4825
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