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

研究成果: Article査読

49 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)5-8
ページ数4
ジャーナルNeuroscience Letters
196
1-2
DOI
出版ステータスPublished - 18-08-1995

All Science Journal Classification (ASJC) codes

  • 神経科学(全般)

フィンガープリント

「GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル