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Characterization of a new gene family developing pleiotropic phenotypes upon mutation inSaccharomyces cerevisiae

✍ Scribed by Emmanuelle Revardel; Marc Bonneau; Pascal Durrens; Michel Aigle


Book ID
113263401
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
396 KB
Volume
1263
Category
Article
ISSN
0167-4781

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Metachromatic Leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The disease manifests itself with a broad spectrum of clinical variants, all characterized by progressive neurodegeneration in the central and peripheral nervous syst