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Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure and kidney cysts.

A novelCOL4A1frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen