Browsing by Subject "phenotypic variation"

Now showing items 1-2 of 2

    • Article  

      Molecular genetics of familial hematuric diseases 

      Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Voskarides, Konstantinos (2013)
      The familial hematuric diseases are a genetically heterogeneous group of monogenic conditions, caused by mutations in one of several genes. The major genes involved are the following: (i) the collagen IV genes COL4A3/A4/A5 ...
    • Article  

      X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5 

      Demosthenous, Panayiota; Voskarides, Konstantinos; Stylianou, Konstantinos G.; Hadjigavriel, Michalis; Arsali, Maria; Patsias, Charalambos; Georgaki, Eleni; Zirogiannis, P.; Stavrou, Christoforos V.; Daphnis, Eugenios K.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2012)
      The X-linked Alport syndrome (ATS) is caused by mutations in COL4A5 and exhibits a widely variable expression. Usually ATS is heralded with continuous microhematuria which rapidly progresses to proteinuria, hypertension ...