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PMID:17101830
| Citation |
Ohta, E, Funayama, M, Ichinose, H, Toyoshima, I, Urano, F, Matsuo, M, Tomoko, N, Yukihiko, K, Yoshino, S, Yokoyama, H, Shimazu, H, Maeda, K, Hasegawa, K and Obata, F (2006) Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. Arch. Neurol. 63:1605-10 |
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| Abstract |
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. |
| Links |
PubMed Online version:10.1001/archneur.63.11.1605 |
| Keywords |
Adolescent; Adult; Animals; Biopterin/cerebrospinal fluid; Child; Child, Preschool; DNA Mutational Analysis/methods; Dystonic Disorders/cerebrospinal fluid; Dystonic Disorders/genetics; Dystonic Disorders/metabolism; Exons; Female; GTP Cyclohydrolase/genetics; Humans; Isoleucine/genetics; Japan; Male; Microsatellite Repeats; Mutation; Neopterin/cerebrospinal fluid; Threonine/genetics |
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Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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See also
References
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