Multiple ligation-dependent probe amplification analysis

Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene

W. T. Shi, Cai, C. Y., Li, M. S., Ling, C., and Li, W. D., Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene, vol. 14, pp. 11185-11190, 2015.

We identified three novel mutations of the GTP cyclohydrolase 1 (GCH1) gene in patients with familial dopa-responsive dystonia (DRD), but were unable to identify meaningful sporadic mutations in patients with no obvious family DRD background. To investigate whether GCH1 regional deletions account for the etiology of DRD, we screened for heterozygous exonic deletions in DRD families and in patients with sporadic DRD.

Subscribe to Multiple ligation-dependent probe amplification analysis