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Document type:
journal article 
Author(s):
Weber, Stefanie; Strasser, Katja; Rath, Sabine; Kittke, Achim; Beicht, Sonja; Alberer, Martin; Lange-Sperandio, Bärbel; Hoyer, Peter F; Benz, Marcus R; Ponsel, Sabine; Weber, Lutz T; Klein, Hanns-Georg; Hoefele, Julia 
Title:
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. 
Abstract:
Alport syndrome (ATS) is a progressive hereditary nephropathy characterized by hematuria and proteinuria. It can be associated with extrarenal manifestations. In contrast, thin basement membrane nephropathy (TBMN) is characterized by microscopic hematuria, is largely asymptomatic, and is rarely associated with proteinuria and end-stage renal disease. Mutations have been identified in the COL4A5 gene in ATS and in the COL4A3 and COL4A4 genes in ATS and TBMN. To date, more than 1000 different muta...    »
 
Journal title abbreviation:
Pediatr Nephrol 
Year:
2016 
Journal volume:
31 
Journal issue:
Pages contribution:
941-55 
Language:
eng 
Print-ISSN:
0931-041X 
TUM Institution:
Institut für Humangenetik