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Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria.
Jin, Xiaohua; Yan, Yousheng; Zhang, Chuan; Tai, Ya; An, Lisha; Yu, Xinyou; Zhang, Linlin; Hao, Shengju; Cao, Xiaofang; Yin, Chenghong; Ma, Xu.
Afiliación
  • Jin X; National Research Institute for Family Planning, Beijing, China.
  • Yan Y; National Human Genetic Resources Center, Beijing, China.
  • Zhang C; Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
  • Tai Y; National Research Institute for Family Planning, Beijing, China.
  • An L; National Human Genetic Resources Center, Beijing, China.
  • Yu X; Gansu Province Medical Genetics Center, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, China.
  • Zhang L; Department of Obstetrics and Gynecology, Peking University International Hospital, Beijing, China.
  • Hao S; National Research Institute for Family Planning, Beijing, China.
  • Cao X; National Human Genetic Resources Center, Beijing, China.
  • Yin C; Department of Prenatal Diagnosis Center, General Hospital of Ningxia Medical University, Yinchuan, China.
  • Ma X; Clinical Lab, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Hum Mutat ; 43(1): 56-66, 2022 01.
Article en En | MEDLINE | ID: mdl-34747549
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina Hidroxilasa / Fenilcetonurias Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenilalanina Hidroxilasa / Fenilcetonurias Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: China