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

48 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

  • Neuroscience(all)

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