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Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.
Zhang, Ruixiao; Chen, Zeqing; Song, Qijing; Wang, Sai; Liu, Zhiying; Zhao, Xiangzhong; Shi, Xiaomeng; Guo, Wencong; Lang, Yanhua; Bottillo, Irene; Shao, Leping.
Afiliación
  • Zhang R; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Chen Z; Academy for Engineering and Technology, Fudan University, Shanghai, China.
  • Song Q; Emergency Center, People's Hospital of Jimo District, Qingdao, China.
  • Wang S; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Liu Z; Department of Dermatology, Peking University First Hospital, Beijing, China.
  • Zhao X; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
  • Shi X; Central Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, China.
  • Guo W; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, 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.
  • Shao L; Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
Hum Mutat ; 42(9): 1153-1164, 2021 09.
Article en En | MEDLINE | ID: mdl-34157794
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acidosis Tubular Renal / ATPasas de Translocación de Protón Vacuolares Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 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: Acidosis Tubular Renal / ATPasas de Translocación de Protón Vacuolares Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos