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Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.
Miyado, Mami; Fukami, Maki; Takada, Shuji; Terao, Miho; Nakabayashi, Kazuhiko; Hata, Kenichiro; Matsubara, Yoichi; Tanaka, Yoko; Sasaki, Goro; Nagasaki, Keisuke; Shiina, Masaaki; Ogata, Kazuhiro; Masunaga, Youhei; Saitsu, Hirotomo; Ogata, Tsutomu.
Afiliación
  • Miyado M; Departments of Molecular Endocrinology.
  • Fukami M; Departments of Molecular Endocrinology, fukami-m@ncchd.go.jp tomogata@hama-med.ac.jp.
  • Takada S; Systems BioMedicine.
  • Terao M; Systems BioMedicine.
  • Nakabayashi K; Maternal-Fetal Biology and.
  • Hata K; Maternal-Fetal Biology and.
  • Matsubara Y; Head Office, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Tanaka Y; Department of Pediatrics, Tokyo Dental College, Ichikawa General Hospital, Ichikawa, Japan.
  • Sasaki G; Department of Pediatrics, Tokyo Dental College, Ichikawa General Hospital, Ichikawa, Japan.
  • Nagasaki K; Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
  • Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan; and.
  • Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan; and.
  • Masunaga Y; Departments of Pediatrics and.
  • Saitsu H; Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Ogata T; Departments of Molecular Endocrinology, fukami-m@ncchd.go.jp tomogata@hama-med.ac.jp.
J Am Soc Nephrol ; 30(5): 877-889, 2019 05.
Article en En | MEDLINE | ID: mdl-30962325
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cromograninas / Subunidades alfa de la Proteína de Unión al GTP Gs / Predisposición Genética a la Enfermedad / Enfermedades Genéticas Ligadas al Cromosoma X / Mutación con Ganancia de Función / Síndrome de Secreción Inadecuada de ADH Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: J Am Soc Nephrol Asunto de la revista: NEFROLOGIA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Cromograninas / Subunidades alfa de la Proteína de Unión al GTP Gs / Predisposición Genética a la Enfermedad / Enfermedades Genéticas Ligadas al Cromosoma X / Mutación con Ganancia de Función / Síndrome de Secreción Inadecuada de ADH Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: J Am Soc Nephrol Asunto de la revista: NEFROLOGIA Año: 2019 Tipo del documento: Article