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  • Aude Servais, Véronique Frémeaux-Bacchi, +7 authors Fadi Fakhouri
  • Medicine, Biology
  • Journal of Medical Genetics
  • 2006 (First Publication: 3 October 2006)
  • Introduction: Abnormal control of the complement alternative pathway (CAP) (factor H, factor I and membrane cofactor protein (MCP) deficiencies) is a well established risk factor for the occurrenceContinue Reading
  • Jean Philippe Jais, Bertrand Knebelmann, +21 authors Marie Claire Gubler
  • Medicine
  • Journal of the American Society of Nephrology…
  • 2003 (First Publication: 1 October 2003)
  • Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsibleContinue Reading
  • Ron T. Gansevoort, Mustafa Arıcı, +18 authors Wim Van Biesen
  • Medicine
  • Nephrology, dialysis, transplantation : official…
  • 2016 (First Publication: 29 January 2016)
  • Recently, the European Medicines Agency approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency of autosomal dominantContinue Reading