We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Identification of a new mutation in the α4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.
- Authors
Ciccarese, Milco; Casu, Domenica; Wong, Fung Ki; Faedda, Rossana; Arvidsson, Sivonne; Tonolo, Giancarlo; Luthman, Holger; Satta, Andrea
- Abstract
Background. Alport syndrome (AS) is a hereditary disease of the glomerular basement membrane in the kidney characterized by progressive renal failure, sensorineural deafness, and/or ocular abnormalities. In contrast to the well‐known X‐linked phenotype, very little is known about the autosomal dominant form. Rare autosomal forms of AS have been described with mutations in COL4A3 and COL4A4 at chromosome region 2q35‐q37, but there have been no descriptions of dominant forms due to a mutation in COL4A4.
- Publication
Nephrology Dialysis Transplantation, 2001, Vol 16, Issue 10, p2008
- ISSN
0931-0509
- Publication type
Article
- DOI
10.1093/ndt/16.10.2008