Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. [electronic resource]
- Neuroscience letters 03 2017
- 48-54 p. digital
Publication Type: Case Reports; Journal Article
1872-7972
10.1016/j.neulet.2017.01.019 doi
Asian People--genetics Child, Preschool China DNA Mutational Analysis Dystonic Disorders--genetics Female GTP Cyclohydrolase--genetics Genotype Humans Infant Male Mutation Pedigree Phenotype Pregnancy Prenatal Diagnosis Tyrosine 3-Monooxygenase--genetics