An 11-bp deletion in the arylsulfatase A
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Wolfgang Bohne; Kurt Figura; Volkmar Gieselmann
📂
Article
📅
1991
🏛
Springer
🌐
English
⚖ 572 KB
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts