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Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
Yan, Yousheng; Zhang, Chuan; Jin, Xiaohua; Zhang, Qinhua; Zheng, Lei; Feng, Xuan; Hao, Shengju; Gao, Huafang; Ma, Xu.
Afiliação
  • Yan Y; Graduate School of Peking Union Medical College, Beijing, 100730, China.
  • Zhang C; National Research Institute for Health and Family Planning, No. 12 Dahuisi Road, Beijing, 100081, China.
  • Jin X; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, 730050, China.
  • Zhang Q; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, 730050, China.
  • Zheng L; Graduate School of Peking Union Medical College, Beijing, 100730, China.
  • Feng X; National Research Institute for Health and Family Planning, No. 12 Dahuisi Road, Beijing, 100081, China.
  • Hao S; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, 730050, China.
  • Gao H; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, 730050, China.
  • Ma X; Gansu Province Medical Genetics Center, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, 730050, China.
Metab Brain Dis ; 34(3): 733-745, 2019 06.
Article em En | MEDLINE | ID: mdl-30747360
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Fenilcetonúrias / Genótipo / Mutação Tipo de estudo: Diagnostic_studies Limite: Humans País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenilalanina Hidroxilase / Fenilcetonúrias / Genótipo / Mutação Tipo de estudo: Diagnostic_studies Limite: Humans País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article