Article
Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?
Pediatric nephrology (Berlin, Germany) - 1 May 2007
Zhang Ke Wei, Tonna Stephen, Wang Yan Yan, Rana Kesha, Padavarat Smitha, Savige Judy
Abstract excerpt
Thin basement membrane nephropathy (TBMN) is the commonest cause of persistent glomerular haematuria and often presents in childhood. Only 40% of affected individuals have mutations identified in the COL4A3 and COL4A4 genes, but mutations in the genes for other COL4A isoforms also result in thinned membranes in humans (COL4A5) and mice (COL4A1). This study examined whether COL4A1/COL4A2 represented a further...
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