Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases-Reference-Cited by-同舟云学术

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Published:2013-10-17 Issue:3 Volume:86 Page:252-257
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Fallerini C.¹,Dosa L.¹²,Tita R.¹,Del Prete D.³,Feriozzi S.⁴,Gai G.⁵,Clementi M.⁶,La Manna A.⁷,Miglietti N.⁸,Mancini R.²,Mandrile G.⁹,Ghiggeri G.M.¹⁰,Piaggio G.¹⁰,Brancati F.¹¹,Diano L.¹¹,Frate E.¹²,Pinciaroli A.R.¹³,Giani M.¹⁴,Castorina P.¹⁴,Bresin E.¹⁵,Giachino D.⁹¹⁶,De Marchi M.⁹¹⁶,Mari F.¹²,Bruttini M.¹²,Renieri A.¹²,Ariani F.¹

Affiliation:

1. Medical Genetics; University of Siena; Siena Italy

2. Genetica Medica; Azienda Ospedaliera Universitaria Senese; Siena Italy

3. Department of Medicine, Nephrology Clinic; University of Padova; Padova Italy

4. Nephrology and Dialysis Unit; Hospital Belcolle; Viterbo Italy

5. S.C. Medical Genetics; A.O. City of Health and Science; Torino Italy

6. Clinical Genetics Unit, Department of Woman & Child Health; University of Padova; Padova Italy

7. Department of Pediatrics; Second University of Napoli; Napoli Italy

8. Nephrology DH; Pediatric Clinic of the University of Brescia; Brescia Italy

9. Medical Genetics, San Luigi University Hospital; Orbassano Italy

10. Nephrology Dialysis and Transplantation Unit; Institute “G Gaslini”; Genova Italy

11. Medical Genetics; University Hospital “Tor Vergata”; Roma Italy

12. Medical Genetics; Azienda Unita Locale Socio-Sanitaria n° 9; Treviso Italy

13. Nephrology and Dialysis S.O.C., Department of General Medicine and Medical Specialties “Giuseppe Spada”; A.O. Pugliese-Ciaccio; Catanzaro Italy

14. U.O.C. Pediatric Nephrology and Hemodialysis, U.O.C. Nephrology, Dialysis and Renal Transplantation, Audiology Unit; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policilinico; Milano Italy

15. I.R.C.C.S., Istituto di Ricerche Farmacologiche Mario Negri; Clinical Research Center for Rare Diseases “Aldo e Cele Daccò”; Ranica (BG) Italy

16. University of Torino; Dept. Clinical & Biological Sciences; Torino Italy

Funder

Telethon Network of Genetic Biobanks

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Hereditary familial congenital haemorrhagic nephritis;Alport;Br Med J,1927

2. Identification of mutations in the COL4A5 collagen gene in Alport syndrome;Barker;Science,1990

3. Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome;Mochizuki;Nat Genet,1994