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A novel 4.9 Kb deletion at beta-globin gene is identified by the third-generation sequencing: Case report from Baoan, China.
Chen, Xu; Luo, Mingyue; Pan, Lei; Huang, Yuting; Yan, Zehao; Shen, Kai; Mai, Guangxing; Liang, Hui; Li, Jiaqi; Chen, Yiwei; Xiong, Likuan.
Afiliação
  • Chen X; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China.
  • Luo M; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China.
  • Pan L; Department of Medical Genetics and Prenatal Diagnosis, Baoan Women's and Children's Hospital, Shenzhen, China.
  • Huang Y; Department of Gynecology and Obstetrics, Huiyang Maternity and Child Health Hospital, Huizhou, China.
  • Yan Z; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China.
  • Shen K; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China.
  • Mai G; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China.
  • Liang H; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China.
  • Li J; Berry Genomics Corporation, Beijing, China.
  • Chen Y; Berry Genomics Corporation, Beijing, China.
  • Xiong L; Central Laboratory, Baoan Women's and Children's Hospital, Shenzhen, China; Shenzhen Key Laboratory of Birth Defects Research, Shenzhen, China. Electronic address: xionglk@sina.cn.
Clin Chim Acta ; 529: 10-16, 2022 Apr 01.
Article em En | MEDLINE | ID: mdl-35150653
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Talassemia beta / Talassemia alfa Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans País/Região como assunto: Asia Idioma: En Revista: Clin Chim Acta Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Talassemia beta / Talassemia alfa Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans País/Região como assunto: Asia Idioma: En Revista: Clin Chim Acta Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China País de publicação: Holanda