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A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
Yang, Jing; Wang, Honglian; Yin, Kunlun; Hua, Baolai; Zhu, Tienan; Zhao, Yongqiang; Guo, Shubin; Yu, Xuezhong; Wu, Wei; Zhou, Zhou.
Afiliación
  • Yang J; Department of Emergency medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China. Electronic address: yangbujing@126.com.
  • Wang H; State Key Laboratory of Cardiovascular Disease, Center of Molecular Diagnostics, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
  • Yin K; State Key Laboratory of Cardiovascular Disease, Center of Molecular Diagnostics, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
  • Hua B; Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
  • Zhu T; Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
  • Zhao Y; Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
  • Guo S; Department of Emergency medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
  • Yu X; Department of Emergency medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
  • Wu W; Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
  • Zhou Z; State Key Laboratory of Cardiovascular Disease, Center of Molecular Diagnostics, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China. Electronic address: fwcomd@126.com.
Gene ; 565(2): 288-90, 2015 Jul 10.
Article en En | MEDLINE | ID: mdl-25870942
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hidroximetilbilano Sintasa / Porfiria Intermitente Aguda / Mutación Missense / Pueblo Asiatico Límite: Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Gene Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Hidroximetilbilano Sintasa / Porfiria Intermitente Aguda / Mutación Missense / Pueblo Asiatico Límite: Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Gene Año: 2015 Tipo del documento: Article