Browsing by Author "Pierides, Alkis"

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    • Article  

      COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect? 

      Voskarides, Konstantinos; Papagregoriou, Gregory; Hadjipanagi, Despina; Petrou, Ioanelli; Savva, Isavella; Elia, Avraam; Athanasiou, Yiannis; Pastelli, Androulla; Kkolou, Maria; Hadjigavriel, Michalis; Stavrou, Christoforos; Pierides, Alkis; Deltas, Constantinos (2018)
      About 40–50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full ...