Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited sulfatide storage disease caused by deficient activity of the lysosomal enzyme arylsulfatase A (ASA). Genetic analysis of the ARSA gene is important in MLD diagnosis and screening of family members. In addition, more information on genotype prevalence will help interpreting MLD population differences between countries. In this study, we identified 31 different ARSA variants in the patient cohort (n = 67) of the Dutch expertise center for MLD. The most frequently found variant, c.1283C > T, p.(Pro428Leu), was present in... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2020 |
Schlagwörter: | ARSA gene / Arylsulfatase A / Genetic association studies / Metachromatic leukodystrophy |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-27607693 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://repub.eur.nl/pub/128853 |