Novel COL4A4 splice defect and in‐frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome-Reference-Cited by-同舟云学术

Novel COL4A4 splice defect and in‐frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome

Published:2003-06-01 Issue:6 Volume:18 Page:1122-1127
ISSN:1460-2385
Container-title:Nephrology Dialysis Transplantation
language:en
Short-container-title:

Author:

Gross Oliver¹,Netzer Kai‐Olaf¹,Lambrecht Romy¹,Seibold Stefan¹,Weber Manfred¹

Affiliation:

1. Medical Faculty University of Cologne, Cologne General Hospital, Department of Internal Medicine I, Merheim Medical Center, Cologne, Germany

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ndt/article-pdf/18/6/1122/24552291/181122.pdf

Reference21 articles.

1. Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J1927; 1:504–506

2. Flinter FA, Cameron JS, Chantler C, Housten I, Bobrow M. Genetics of classic Alport's syndrome. Lancet1988; ii:1005–1007

3. Hudson BG, Reeders ST, Tryggvason K. Type IV collagen: structure, gene organisation, and role in human diseases. J Biol Chem1993; 268:26033–26036

4. Kashtan CE, Gubler M‐C, Sisson‐Ross S, Mauer M. Chronology of renal scarring in males with Alport syndrome. Pediatr Nephrol1998; 12:269–274

5. Atkin CL, Gregory MC, Border WA. Alport syndrome. In: Schrier RW, Gotsschalk CW eds. Diseases of the Kidney. Boston, Little, Brown & Co,1988;617–641

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