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
10.1371/journal.pone.0106388
PLoS One
2014 Sep 2;9(9):e106388.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25181484/
Dystonic Disorders / diagnosis Dystonic Disorders / genetics Exome / genetics Genetic Testing Sequence Analysis, DNA / methods
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
PMC4152247
25181484
Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing
2014