Single exon mutation in arylsulfatase A
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Yoriyasu Hasegawa; Hiroshi Kawame; Hiroyuki Ida; Toya Ohashi; Yoshikatsu Eto
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Article
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1994
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Springer
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English
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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