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COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Kitzler, Thomas M; Schneider, Ronen; Kohl, Stefan; Kolvenbach, Caroline M; Connaughton, Dervla M; Dai, Rufeng; Mann, Nina; Nakayama, Makiko; Majmundar, Amar J; Wu, Chen-Han W; Kari, Jameela A; El Desoky, Sherif M; Senguttuvan, Prabha; Bogdanovic, Radovan; Stajic, Natasa; Valivullah, Zaheer; Lek, Monkol; Mane, Shrikant; Lifton, Richard P; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm.
  • Kitzler TM; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Schneider R; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Kohl S; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Kolvenbach CM; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Connaughton DM; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Dai R; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Mann N; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Nakayama M; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Majmundar AJ; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Wu CW; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Kari JA; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • El Desoky SM; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • Senguttuvan P; Department of Pediatric Nephrology, Dr. Mehta's Multi-Specialty Hospital, Chennai, India.
  • Bogdanovic R; Department of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia.
  • Stajic N; Department of Pediatric Nephrology, Institute for Mother and Child Health Care, Belgrade, Serbia.
  • Valivullah Z; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Lek M; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Mane S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Tasic V; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.
  • Shril S; University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.
  • Hildebrandt F; Department of Medicine, Boston Children's Hospital, Enders 561, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
Hum Genet ; 138(10): 1105-1115, 2019 Oct.
Article en En | MEDLINE | ID: mdl-31230195
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Congénitas / Sistema Urinario / Colágeno Tipo IV / Riñón / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Congénitas / Sistema Urinario / Colágeno Tipo IV / Riñón / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article