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Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome.
Shi, Xiaomeng; Wang, Hong; Zhang, Ruixiao; Liu, Zhiying; Guo, Wencong; Wang, Sai; Liu, Xuyan; Lang, Yanhua; Bottillo, Irene; Dong, Bingzi; Shao, Leping.
Afiliación
  • Shi X; Department of Nephrology, the Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Wang H; Department of Nephrology, Qingdao Eighth People's Hospital, Qingdao, China.
  • Zhang R; Department of Nephrology, the Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Liu Z; 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.
  • Wang S; Department of Nephrology, the Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Liu X; Department of Dermatology, Peking University First Hospital, Beijing, China.
  • Lang Y; Department of Nephrology, the Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Bottillo I; Department of Nephrology, the Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Dong B; Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  • Shao L; Department of Endocrinology, the Affiliated Hospital of Qingdao University, Qingdao, China.
Mol Genet Genomic Med ; 11(4): e2128, 2023 04.
Article en En | MEDLINE | ID: mdl-36597580
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Gitelman / Miembro 3 de la Familia de Transportadores de Soluto 12 Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Gitelman / Miembro 3 de la Familia de Transportadores de Soluto 12 Límite: Humans Idioma: En Revista: Mol Genet Genomic Med Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos