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Metachromatic reaction of pseudoisocyanine with sulfatides in metachromatic leukodystrophy (MLD)

✍ Scribed by H. U. Benz; K. Harzer


Publisher
Springer-Verlag
Year
1974
Tongue
English
Weight
863 KB
Volume
27
Category
Article
ISSN
0001-6322

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Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder caused by mutations of the arylsulfatase A ( ARSA) gene. We have investigated more than fifty MLD patients using allele-specific PCR assays to detect the pseudodeficiency (PD) allele and several common MLD mutations, followed

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