Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis

Author:

Papazachariou L.1,Papagregoriou G.1ORCID,Hadjipanagi D.1,Demosthenous P.1,Voskarides K.1ORCID,Koutsofti C.1,Stylianou K.2,Ioannou P.2,Xydakis D.2,Tzanakis I.3,Papadaki A.3,Kallivretakis N.3,Nikolakakis N.4,Perysinaki G.4,Gale D.P.5,Diamantopoulos A.6,Goudas P.7,Goumenos D.8,Soloukides A.9,Boletis I.10,Melexopoulou C.10,Georgaki E.11,Frysira E.12,Komianou F.13,Grekas D.14,Paliouras C.15,Alivanis P.15,Vergoulas G.16,Pierides A.117,Daphnis E.2,Deltas C.1ORCID

Affiliation:

1. Molecular Medicine Research Center & Laboratory of Molecular and Medical Genetics, Department of Biological Sciences; University of Cyprus; Nicosia Cyprus

2. Department of Nephrology; University of Crete-Greece; Heraklion Greece

3. Department of Nephrology; General Hospital of Chania; Crete Greece

4. Division of Nephrology; General Hospital of Rethymno; Crete Greece

5. UCL Division of Medicine and Centre for Nephrology; University College London; London UK

6. Department of Nephrology; Ayios Andreas Hospital; Patra Greece

7. IATOS Dialysis Unit; Patra Greece

8. Department of Nephrology, Medical School; University of Patras; Patra Greece

9. Protypo Nefrologiko Athinon Dialysis Center; Athens Greece

10. Department of Nephrology; Laikon Hospital; Athens Greece

11. Pediatric Nephrology Unit; “IASO” Children's Hospital; Athens Greece

12. Department of Pediatrics, Athens University Medical School; Agia Sophia Children's Hospital; Athens Greece

13. Department of Medical Genetics, Athens University Medical School; Agia Sophia Children's Hospital; Athens Greece

14. University Hospital AXEPA; Thessaloniki Greece

15. Department of Nephrology; General Hospital of Rhodes; Rhodes Greece

16. Organ Transplant Unit; Hippokratio General Hospital; Thessaloniki Greece

17. Department of Nephrology; Hippocrateon Hospital; Nicosia Cyprus

Funder

European Regional Development Fund

Cyprus Research Promotion Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference50 articles.

1. Molecular genetics of familial hematuric diseases;Deltas;Nephrol Dial Transplant,2013

2. Basement membranes and human disease;Van Agtmael;Cell Tissue Res,2010

3. Structure and function of basement membranes;LeBleu;Exp Biol Med (Maywood),2007

4. Inherited diseases of the glomerular basement membrane;Gubler;Nat Clin Pract Nephrol,2008

5. The clinical features of thin basement membrane nephropathy;Gregory;Semin Nephrol,2005

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