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Studies in metachromatic leukodystrophy. XIV. Purification and subunit structure of human liver arylsulfatase a

✍ Scribed by Gordon T. James; James H. Austin


Book ID
115822620
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
644 KB
Volume
98
Category
Article
ISSN
0009-8981

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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