An Intron Mutation in the ACVRL1 May Be Associated with a Transcriptional Regulation Defect in a Chinese Family with Hereditary Hemorrhagic Telangiectasia

• Qian Yu ,

  Contributed equally to this work with: Qian Yu, Xiao-hui Shen

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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• Xiao-hui Shen ,

  Contributed equally to this work with: Qian Yu, Xiao-hui Shen

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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• Ying Li,

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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• Rui-juan Li,

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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• Ji Li,

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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• Yun-ya Luo,

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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• Su-fang Liu,

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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• Ming-yang Deng,

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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• Min-fei Pei,

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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• Guang-sen Zhang

  * E-mail: zgsllzy@163.com

  Affiliation Division of Hematology, Institution of molecular hematology, The Second Xiang-Ya Hospital, Central South University, Changsha, Hunan, People’s Republic of China

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