Article
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.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jun 2003
Gross Oliver, Netzer Kai-Olaf, Lambrecht Romy, Seibold Stefan, Weber Manfred
Abstract excerpt
BACKGROUND: Alport syndrome (AS) is a common hereditary cause for end-stage renal failure due to a defect in type IV collagen genes. The molecular pathogenesis of benign familial haematuria (BFH) is not fully understood. Evidence from linkage analyses and mutation studies point to a role of the COL4A3/COL4A4 genes. The present study describes molecular changes of the COL4A4 gene that cause both diseases:...
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