Zhang, Wen

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