Article
Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.
Archives of neurology - 1 Nov 2006
Ohta Etsuro, Funayama Manabu, Ichinose Hiroshi, Toyoshima Itaru, Urano Fumi, Matsuo Mitsuhiro, Tomoko Nishida, Yukihiko Konishi, Yoshino Syuji, Yokoyama Hiroyuki, Shimazu Hideki, Maeda Koji, Hasegawa Kazuko, Obata Fumiya
Abstract excerpt
OBJECTIVES: To better understand the relationship between mutation of the guanosine triphosphate cyclohydrolase I (GCH1) gene and the etiology of DYT5 dystonia and to accumulate data on the mutation in the Japanese population for genetic diagnosis of the disease. SETTING: Japanese population. Pat...
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