Tag: hypomorphic

X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure

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REVIEW ARTICLE

Hippokratia 2013, 17(3):207-213

Pierides A, Voskarides K, Kkolou M, Hadjigavriel M, Deltas C
Department of Nephrology, Hippocrateon Hospital, Nicosia, Department of Biological Sciences and Molecular Medicine Research Center, University of Cyprus, Nicosia, Department of Nephrology, Larnaca General Hospital, Larnaca, Cyprus