Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein
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DOI: 10.1093/ndt/gfx083
Abstract: Background Medullary cystic kidney disease Type 1 is an autosomal dominant tubulointerstitial kidney disease (ADTKD). Recently, mucin 1 (MUC1) was identified as a causal gene of medullary cystic kidney disease (ADTKD-MUC1). However, the MUC1 mutation… read more here.
Keywords: protein; muc1; muc1 protein; mutant muc1 ... See more keywords