Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes

Michele Di Perna, Eirini Louizou, Lucia Fischetti, G. V Z Dedoussis, Pietro Stanziale, Helen Michelakakis, Leopoldo Zelante, Elon Pras, Luigi Bisceglia

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Medicine & Life Sciences