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Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency

โœ Scribed by Rebecca Ott; John S. Waye; P. L. Chang; P. Chang


Book ID
106136816
Publisher
Springer
Year
1997
Tongue
English
Weight
169 KB
Volume
101
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