GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

doi:10.1016/0304-3940(95)11820-m

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Article

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

Neuroscience letters - 18 Aug 1995

Ichinose H, Ohye T, Segawa M, Nomura Y, Endo K, Tanaka H, Tsuji S, Fujita K, Nagatsu T

Abstract excerpt

We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with H...

Topics

Base Sequence
Dystonia
Family
GTP Cyclohydrolase
Genes
Guanosine Triphosphate
Humans
Molecular Sequence Data
Mutation

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