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Thalassaemia intermedia caused by coinheritance of a ß-thalassaemia mutation and a de novo duplication of α-globin genes in the paternal allele.
Pang, Dejian; Shang, Xuan; Cai, Decheng; Zhu, Fei; Cheng, Yi; Zhong, Jianmei; Yi, Sheng; Zhang, Qianqian; Xu, Xiangmin.
Afiliação
  • Pang D; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
  • Shang X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
  • Cai D; Guangdong Genetics Testing Engineering Research Centre, Guangzhou, Guangdong, China.
  • Zhu F; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou, Guangdong, China.
  • Cheng Y; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
  • Zhong J; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
  • Yi S; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
  • Zhang Q; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
  • Xu X; Prenatal Diagnostic Centre, Guangxi Zhuang Autonomous Region Women and Children Care Hospital, Nanning, Guangxi, China.
Br J Haematol ; 186(4): 620-624, 2019 08.
Article em En | MEDLINE | ID: mdl-31124576

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Talassemia beta / Talassemia alfa / Duplicação Gênica / Alfa-Globinas / Globinas beta / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Talassemia beta / Talassemia alfa / Duplicação Gênica / Alfa-Globinas / Globinas beta / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article