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

Hiroshi Ichinose, Tamae Ohye, Masaya Segawa, Yoshiko Nomura, Kotaro Endo, Hajime Tanaka, Shoji Tsuji, Keisuke Fujita, Toshiharu Nagatsu

Research output: Contribution to journalArticle

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Abstract

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 HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.

Original languageEnglish
Pages (from-to)5-8
Number of pages4
JournalNeuroscience Letters
Volume196
Issue number1-2
DOIs
Publication statusPublished - 18-08-1995

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GTP Cyclohydrolase
Mutation
Genes
Proline
Leucine
Exons
Dopa-Responsive Dystonia

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)

Cite this

Ichinose, Hiroshi ; Ohye, Tamae ; Segawa, Masaya ; Nomura, Yoshiko ; Endo, Kotaro ; Tanaka, Hajime ; Tsuji, Shoji ; Fujita, Keisuke ; Nagatsu, Toshiharu. / GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. In: Neuroscience Letters. 1995 ; Vol. 196, No. 1-2. pp. 5-8.
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Ichinose, H, Ohye, T, Segawa, M, Nomura, Y, Endo, K, Tanaka, H, Tsuji, S, Fujita, K & Nagatsu, T 1995, 'GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation', Neuroscience Letters, vol. 196, no. 1-2, pp. 5-8. https://doi.org/10.1016/0304-3940(95)11820-M

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. / Ichinose, Hiroshi; Ohye, Tamae; Segawa, Masaya; Nomura, Yoshiko; Endo, Kotaro; Tanaka, Hajime; Tsuji, Shoji; Fujita, Keisuke; Nagatsu, Toshiharu.

In: Neuroscience Letters, Vol. 196, No. 1-2, 18.08.1995, p. 5-8.

Research output: Contribution to journalArticle

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AU - Ichinose, Hiroshi

AU - Ohye, Tamae

AU - Segawa, Masaya

AU - Nomura, Yoshiko

AU - Endo, Kotaro

AU - Tanaka, Hajime

AU - Tsuji, Shoji

AU - Fujita, Keisuke

AU - Nagatsu, Toshiharu

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