𝔖 Bobbio Scriptorium
✦   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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


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

Identification of 12 novel mutations and
✍ Laura Gort; M. Josep Coll; Amparo Chabás 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB 👁 2 views

Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unr