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Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations

โœ Scribed by Johannes Berger; Brunhilde Molzer; Volkmar Gieselmann; Hanno Bernheimer


Publisher
Springer
Year
1993
Tongue
English
Weight
418 KB
Volume
92
Category
Article
ISSN
0340-6717

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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