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A novel COL4A1 frameshift mutation in familial kidney disease
Daniel P Gale, D Deren Oygar, Fujun Lin, P Derin Oygar, Nadia Khan, Thomas MF Connor, Marta Lapsley, Patrick H Maxwell, Guy H Neild
Mar 18, 2019
BACKGROUND: 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...