Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.

doi:10.1007/BF00201666

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Article

Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing.

Human genetics - 1 Apr 1994

Hasegawa Y, Kawame H, Ida H, Ohashi T, Eto Y

Abstract excerpt

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 substituti...

Topics

Adolescent
Base Sequence
Cell Line
Cerebroside-Sulfatase
DNA, Complementary
Exons
Heterozygote
Humans
Leukodystrophy, Metachromatic
Molecular Sequence Data
Mutation
Nucleic Acid Conformation
RNA Precursors
RNA Splicing
RNA, Messenger

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