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Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient

โœ Scribed by Stefano Regis; Susanna Lualdi; Alessandra Biffi; Maria Sessa; Fabio Corsolini; Giancarlo Parenti; Mirella Filocamo


Book ID
116987853
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
364 KB
Volume
89
Category
Article
ISSN
1096-7192

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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