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A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms

โœ Scribed by Stefano Regis; Mirella Filocamo; Marina Stroppiano; Fabio Corsolini; Francesco Caroli; R. Gatti


Publisher
Springer
Year
1998
Tongue
English
Weight
57 KB
Volume
102
Category
Article
ISSN
0340-6717

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An 11-bp deletion in the arylsulfatase A
โœ Wolfgang Bohne; Kurt Figura; Volkmar Gieselmann ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› Springer ๐ŸŒ English โš– 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