article_metadata: Zhan-fang Sun Yu-han Zhang Ji-feng Guo Qi-ying Sun Jun-pu Mei Han-lin Zhou Li-ping Guan Jin-yong Tian Zheng-mao Hu Jia-da Li Kun Xia Xin-xiang Yan Bei-sha Tang
article_metadata: 10.1371/journal.pone.0106388
article_metadata: PLoS One
article_metadata: 2014 Sep 2;9(9):e106388.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25181484/
article_metadata: Dystonic Disorders / diagnosis Dystonic Disorders / genetics Exome / genetics Genetic Testing Sequence Analysis, DNA / methods
article_metadata: Dystonic Disorders / diagnosis Dystonic Disorders / genetics Exome / genetics Genetic Testing Sequence Analysis, DNA / methods Case Reports Research Support, Non-U.S. Gov't Adolescent Amino Acid Sequence Base Sequence Cell Extracts Child, Preschool Female GTP Cyclohydrolase / chemistry GTP Cyclohydrolase / genetics Humans Male Middle Aged Molecular Sequence Data Mutant Proteins / metabolism Mutation / genetics Transfection Tyrosine 3-Monooxygenase / metabolism Young Adult Cell Extracts Mutant Proteins Tyrosine 3-Monooxygenase GTP Cyclohydrolase Dystonia, Dopa-responsive
article_metadata: PMC4152247
article_metadata: 25181484
article_metadata: Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing
article_metadata: 2014