Article
Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.
Biochemical and biophysical research communications - 15 Aug 1995
Hirano M, Tamaru Y, Nagai Y, Ito H, Imai T, Ueno S
Abstract excerpt
We report a novel mutation at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia with marked diurnal fluctuation (HPD)/dopa responsive dystonia (DRD). Reverse transcriptase-initiated PCR (RT-PCR) of lymphocyte mRNA showed both normal and small...
Topics
- Adult
- Base Sequence
- Dystonia
- Exons
- Frameshift Mutation
- GTP Cyclohydrolase
- Humans
- Japan
- Levodopa
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger
- RNA-Directed DNA Polymerase