Evidence of digenic inheritance in Alport syndrome-Reference-Cited by-同舟云学术

Evidence of digenic inheritance in Alport syndrome

Published:2015-01-09 Issue:3 Volume:52 Page:163-174
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Mencarelli Maria Antonietta,Heidet Laurence,Storey Helen,van Geel Michel,Knebelmann Bertrand,Fallerini Chiara,Miglietti Nunzia,Antonucci Maria Fatima,Cetta Francesco,Sayer John A,van den Wijngaard Arthur,Yau Shu,Mari Francesca,Bruttini Mirella,Ariani Francesca,Dahan Karin,Smeets Bert,Antignac Corinne,Flinter Frances,Renieri Alessandra

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference44 articles.

1. Hereditary Familial Congenital Haemorrhagic Nephritis;Alport;Br Med J,1927

2. Alport syndrome—insights from basic and clinical research;Kruegel;Nat Rev Nephrol,2013

3. Alport's syndrome, Goodpasture's syndrome, and type IV collagen;Hudson;N Engl J Med,2003

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

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

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