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A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme

โœ Scribed by Sabine Kafert; Uwe Heinisch; Joel Zlotogora; Volkmar Gieselmann


Publisher
Springer
Year
1995
Tongue
English
Weight
592 KB
Volume
95
Category
Article
ISSN
0340-6717

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The arylsulfatase A gene of a Japanese patient who has the juvenile form of metachromatic leukodystrophy, and who has been previously reported as a heterozygote of the 1070A mutation, was investigated. Nucleotide sequence analysis revealed the presence of a previously unreported C-to-T substitution