Search results for: COL4A5

• Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

  Publication

  • A. M. Żurowska
  • O. Bielska
  • P. Daca-Roszak
  • M. Jankowski
  • M. Szczepańska
  • D. Roszkowska-Bjanid
  • E. Kuźma-Mroczkowska
  • M. Pańczyk-Tomaszewska
  • A. Moczulska
  • D. Drożdż... and 18 others

  - KIDNEY INTERNATIONAL - Year 2021

  A study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically confirmed X-linked Alport Syndrome. A single variant c.1871G>A p.Gly624Asp (G624D) in COL4A5 was predominant and accounted for 39% of Xlinked Alport Syndrome in unrelated Polish families (44 of 113). To evaluate its origins, the genetic variation in a 2.79 Mb segment encompassing...

  Full text available to download

• Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

  Publication

  • A. Żurowska
  • O. Bielska
  • P. Daca-Roszak
  • M. Jankowski
  • M. Szczepańska
  • D. Roszkowska-Bjanid
  • E. Kuźma-Mroczkowska
  • M. Pańczyk-Tomaszewska
  • A. Moczulska
  • D. Drożdż... and 18 others

  - KIDNEY INTERNATIONAL - Year 2021

  Full text to download in external service