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Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
Liu, Ning; Huang, Qiuying; Li, Qingge; Zhao, Dehua; Li, Xiaole; Cui, Lixia; Bai, Ying; Feng, Yin; Kong, Xiangdong.
Afiliação
  • Liu N; Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, People's Republic of China.
  • Huang Q; State Key Laboratory of Cellular Stress Biology, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, Engineering Research Centre of Molecular Diagnostics, Ministry of Education, School of Life Sciences, Xiamen University, Xiangan Rd, Xiangan District, Xiamen, Fujian, 361102, Peo
  • Li Q; State Key Laboratory of Cellular Stress Biology, State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, Engineering Research Centre of Molecular Diagnostics, Ministry of Education, School of Life Sciences, Xiamen University, Xiangan Rd, Xiangan District, Xiamen, Fujian, 361102, Peo
  • Zhao D; Neonatal Screening Center, The Third Affiliated Hospital of Zhengzhou University, Kangfu Rd, Erqi District, Zhengzhou, Henan, 450052, People's Republic of China.
  • Li X; Neonatal Screening Center, The Third Affiliated Hospital of Zhengzhou University, Kangfu Rd, Erqi District, Zhengzhou, Henan, 450052, People's Republic of China.
  • Cui L; Neonatal Screening Center, Zhengzhou Maternity and Child Care Hospital, Jinshui Rd, Jinshui District, Zhengzhou, Henan, 450012, People's Republic of China.
  • Bai Y; Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, People's Republic of China.
  • Feng Y; Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, People's Republic of China.
  • Kong X; Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, People's Republic of China. kongxd1968@163.com.
BMC Med Genet ; 18(1): 108, 2017 10 05.
Article em En | MEDLINE | ID: mdl-28982351
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Fenilcetonúrias / Variação Genética / Povo Asiático Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans / Infant País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Fenilcetonúrias / Variação Genética / Povo Asiático Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child, preschool / Humans / Infant País/Região como assunto: Asia Idioma: En Ano de publicação: 2017 Tipo de documento: Article