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Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.
Rungroj, N; Nettuwakul, C; Sawasdee, N; Sangnual, S; Deejai, N; Misgar, R A; Pasena, A; Khositseth, S; Kirdpon, S; Sritippayawan, S; Vasuvattakul, S; Yenchitsomanus, P T.
Afiliación
  • Rungroj N; Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Nettuwakul C; Division of Molecular Genetics, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Sawasdee N; Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Sangnual S; Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Deejai N; Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Misgar RA; Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Pasena A; Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India.
  • Khositseth S; Division of Molecular Medicine, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Kirdpon S; Department of Immunology and Immunology Graduate Program, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Sritippayawan S; Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand.
  • Vasuvattakul S; Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
  • Yenchitsomanus PT; Division of Nephrology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Clin Genet ; 94(5): 409-418, 2018 11.
Article en En | MEDLINE | ID: mdl-30028003

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acidosis Tubular Renal / Proteínas / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Tailandia Pais de publicación: Dinamarca

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acidosis Tubular Renal / Proteínas / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Mutación Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Tailandia Pais de publicación: Dinamarca