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Metachromatic leukodystrophy: relationship between phenotype and mutations in arylsulphatase A in adult forms

✍ Scribed by N Baumann; M Lefèvre; B Colsch; JC Turpin


Book ID
114813386
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
171 KB
Volume
91
Category
Article
ISSN
0803-5253

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Occurrence, distribution, and phenotype
✍ Berger, Johannes; Löschl, Beate; Bernheimer, Hanno; Lugowska, Agnieszka; Tylki-S 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 2 views

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