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Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability

机译：GCH1基因的突变随着DOPA响应肌瘤和表型变异性

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Elsa Krim; Jerome Aupy; Fabienne Clot; Mickael Bonnan; Pierre Burbaud; Dominique Guehl;
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1. Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability [J] . Elsa Krim, Jerome Aupy, Fabienne Clot, Neurology: Genetics . 2018,第2期

机译：多巴反应性肌张力障碍和表型变异的GCH1基因突变。
2. Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia. [J] . Cao L, Zheng L, Tang WG, Movement disorders . 2010,第6期

机译：中国多巴反应性肌张力障碍患者GCH1基因的四个新突变。
3. 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 [J] . Zhang Wen, Zhou Zhizi, Li Xiuzhen, Neuroscience Letters: An International Multidisciplinary Journal Devoted to the Rapid Publication of Basic Research in the Brain Sciences . 2017,第期

机译：中国患者的DOPA响应肌瘤：包括GCH1基因中的新型杂合酶突变，中间表型和产前诊断的一种情况
4. Phenotypic relationship and amino acid variability of the VP7 gene in porcine rotavirus B and C [C] . Annual Meeting of the American Association of Swine Veterinarians . 2018

机译：猪旋转病毒B和C中VP7基因的表型关系和氨基酸可变性
5. DYRK1A Haploinsufficiency as a Subtype of ASD: Phenotypic Presentation and the Role of Parental Phenotype in Accounting for Variability in Individuals with ASD and Disruptive DYRK1A Mutations [D] . Earl, Rachel Kincade. 2018

机译：Dyrk1a Haploinfcuity作为ASD的亚型：表型呈现和父母表型在核查中核算中的变异性和破坏性Dyrk1a突变的作用
6. Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability [O] . Elsa Krim, Jerome Aupy, Fabienne Clot, 2018

机译：多巴反应性肌张力障碍和表型变异的GCH1基因突变。
7. A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva [O] . Rosana H. Scola, Carla Carducci, Vanise G. Amaral, 2007

机译：多巴反应性肌张力障碍中GCH1基因的新型错义突变模式多巴反应性肌张力障碍中GCH1基因的新错义突变模式

Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability

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