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A novel loss-of-function mutation of PBK associated with human kidney stone disease.
Nettuwakul, Choochai; Sawasdee, Nunghathai; Praditsap, Oranud; Rungroj, Nanyawan; Pasena, Arnat; Dechtawewat, Thanyaporn; Deejai, Nipaporn; Sritippayawan, Suchai; Rojsatapong, Santi; Chaowagul, Wipada; Yenchitsomanus, Pa-Thai.
Afiliação
  • Nettuwakul C; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Sawasdee N; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Praditsap O; Division of Medical Genetics Research and Laboratory, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Rungroj N; Division of Medical Genetics Research and Laboratory, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Pasena A; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Dechtawewat T; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Deejai N; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Sritippayawan S; Division of Nephrology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Rojsatapong S; Sappasithiprasong Hospital, Ubon Ratchathani, Thailand.
  • Chaowagul W; Sappasithiprasong Hospital, Ubon Ratchathani, Thailand.
  • Yenchitsomanus PT; Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. pathai.yen@mahidol.edu.
Sci Rep ; 10(1): 10282, 2020 06 24.
Article em En | MEDLINE | ID: mdl-32581305
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Quinases de Proteína Quinase Ativadas por Mitógeno Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Quinases de Proteína Quinase Ativadas por Mitógeno Idioma: En Ano de publicação: 2020 Tipo de documento: Article