Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations
β Scribed by K. Kurosawa; H. Ida; Y. Eto
- Book ID
- 110224491
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 32 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0141-8955
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π SIMILAR VOLUMES
Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A ( ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed
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