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Article

A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia.

The International journal of neuroscience - 1 Aug 2017

Yan Ya-Ping, Zhang Bo, Mao Yan-Fang, Guo Zhang-Yu, Tian Jun, Zhao Guo-Hua, Pu Jia-Li, Luo Wei, Ouyang Zhi-Yuan, Zhang Bao-Rong

Abstract excerpt

Dopa-responsive dystonia (DRD) comprises a heterogeneous group of movement disorders. A limited number of studies of Chinese patients with DRD have been reported. In the present study, we investigated the clinical and genetic features of 12 Chinese DRD families. Point mutation analysis of the GTP-cyclohydrolase I (GCH1), tyrosine hydroxylase (TH) and sepiapterin reductase (SPR) genes was conducted by direct...

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Source

Identifiers

PMID: 27619486
DOI: 10.1080/00207454.2016.1236381

Genes

GCH1
SPR
PARK7
PINK1

Variants

Provenance

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