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A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Olinger, Eric; Alawi, Intisar Al; Al Riyami, Mohammed S; Salmi, Isa Al; Molinari, Elisa; Faqeih, Eissa Ali; Al-Hamed, Mohamed H; Barroso-Gil, Miguel; Powell, Laura; Al-Hussaini, Abdulrahman A; Rahim, Khawla A; Almontashiri, Naif A M; Miles, Colin; Shril, Shirlee; Hildebrandt, Friedhelm; Consortium, Genomics England Research; Wilson, Ian J; Sayer, John A.
Afiliação
  • Olinger E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
  • Alawi IA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
  • Al Riyami MS; National Genetic Center, Ministry of Health, Oman.
  • Salmi IA; The Department of Child Health, The Royal Hospital, Muscat, Oman.
  • Molinari E; The Department of Renal Medicine, The Royal Hospital, Muscat, Oman.
  • Faqeih EA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
  • Al-Hamed MH; Division of Pediatric Gastroenterology, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Barroso-Gil M; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Powell L; Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Hussaini AA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
  • Rahim KA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
  • Almontashiri NAM; Division of Pediatric Gastroenterology, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Miles C; Division of Pediatric Gastroenterology, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Shril S; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Hildebrandt F; Faculty of Applied Medical Sciences, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Consortium GER; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.
  • Wilson IJ; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Sayer JA; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hum Mutat ; 42(10): 1221-1228, 2021 10.
Article em En | MEDLINE | ID: mdl-34212438
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Renais Policísticas / Cirrose Hepática Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Renais Policísticas / Cirrose Hepática Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido