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Functional analysis of the CTNS gene exonic variants predicted to affect splicing.
Li, Changying; Zhang, Ruixiao; Pan, Fengjiao; Xin, Qing; Shi, Xiaomeng; Guo, Wencong; Qiao, Dan; Wang, Zhi; Zhang, Yiyin; Liu, Xuyan; Zhang, Yan; Shao, Leping.
Afiliação
  • Li C; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Zhang R; Department of Emergency, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Pan F; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Xin Q; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Shi X; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Guo W; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Qiao D; Department of Nephrology, Dalian Medical University, Dalian, China.
  • Wang Z; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Zhang Y; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Liu X; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Zhang Y; Department of Nephrology, Weifang Medical University, Weifang, China.
  • Shao L; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Clin Genet ; 105(3): 323-328, 2024 03.
Article em En | MEDLINE | ID: mdl-38009794
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cistinose / Sistemas de Transporte de Aminoácidos Neutros Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cistinose / Sistemas de Transporte de Aminoácidos Neutros Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article