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[A PKLR Gene Novel Complex Mutation in Erythrocyte Pyruvate Kinase Deficiency Detected by Targeted Sequence Capture and Next Generation Sequencing].
Li, Dong-Liang; Zhang, Jing; Liu, Yan-Li; Jiao, Bao-Quan; Wang, Zhi-Wei; Wang, You-Jun; Li, Wen-Jing; Hou, Lan-Fen; Guo, Hong-Mou; Sun, Yu; Guo, Xiao.
Afiliação
  • Li DL; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China. E-mail: ldle2008@sina.com.
  • Zhang J; Department of Internal Medicine, Shijiazhuang Hospital of Integrated Traditional Chinese and Western Medicine, Shijiazhuang 050000, Hebei Province, China.
  • Liu YL; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China.
  • Jiao BQ; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China.
  • Wang ZW; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China.
  • Wang YJ; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China.
  • Li WJ; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China.
  • Hou LF; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China.
  • Guo HM; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China.
  • Sun Y; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China.
  • Guo X; Department of Hematology, Bethune International Peace Hospital of Chinese PLA, Shijiazhuang 050082, Hebei Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 23(5): 1464-8, 2015 Oct.
Article em Zh | MEDLINE | ID: mdl-26524058
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Erros Inatos do Metabolismo dos Piruvatos / Sequenciamento de Nucleotídeos em Larga Escala / Anemia Hemolítica Congênita não Esferocítica / Mutação Limite: Humans Idioma: Zh Revista: Zhongguo Shi Yan Xue Ye Xue Za Zhi Assunto da revista: HEMATOLOGIA Ano de publicação: 2015 Tipo de documento: Article País de publicação: China
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piruvato Quinase / Erros Inatos do Metabolismo dos Piruvatos / Sequenciamento de Nucleotídeos em Larga Escala / Anemia Hemolítica Congênita não Esferocítica / Mutação Limite: Humans Idioma: Zh Revista: Zhongguo Shi Yan Xue Ye Xue Za Zhi Assunto da revista: HEMATOLOGIA Ano de publicação: 2015 Tipo de documento: Article País de publicação: China