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An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping.
Zhang, Qianqian; Lin, Peng; Mao, Aiping; Liu, Yongqiong; Shang, Xuan; Wei, Xiaofeng; Li, Yuezhen; Lin, Bin; Xu, Xiangmin.
Afiliação
  • Zhang Q; Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong, China; Dongguan Maternal and Child Health Care Hospital, Postdoctoral Innovation Practice Base
  • Lin P; Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong, China; Dongguan Maternal and Child Health Care Hospital, Postdoctoral Innovation Practice Base
  • Mao A; Department of TGS Research and Development, Berry Genomics Corporation, Beijing 102200.
  • Liu Y; Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong.
  • Shang X; Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong.
  • Wei X; Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong.
  • Li Y; Department of TGS Research and Development, Berry Genomics Corporation, Beijing 102200.
  • Lin B; Guangzhou Jiexu Gene Technology Co., Ltd., Guangzhou 510530, Guangdong.
  • Xu X; Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong. gzxuzm@pub.guangzhou.gd.cn.
Haematologica ; 109(3): 1000-1006, 2024 Mar 01.
Article em En | MEDLINE | ID: mdl-37767576
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Talassemia beta Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Talassemia beta Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article