Abstract
We report a new mutation in the GTP cyclohydrolase gene in a family with doparesponsive dystonia. A patient and his sister and two children of the patient are affected among people of the three generations with 15 members. The exons of the GTP cyclohydrolase gene were amplified by PCR and sequenced. A novel nonsense mutation (C142 AG to TAG) in exon 1 was identified in all of the four affected patients.
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Hong, K., Kim, Y. & Paik, M. A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with doparesponsive dystonia. Genet Med 2, 105 (2000). https://doi.org/10.1097/00125817-200001000-00197
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DOI: https://doi.org/10.1097/00125817-200001000-00197