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

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    53 Citations (Scopus)

    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

    All Science Journal Classification (ASJC) codes

    • General Neuroscience

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