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Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.
90,94) This finding, in combination with an absence of TCF2 (HNF1P) mutations, (83) places ADGCKD in the category of "uromodullin disorders," which also include autosomal dominant medullary cystic kidney disease (MCKD) types 1 and 2 (MCKD1, Mendelian Inheritance in Man [MIM] 174000; and MCKD2, MIM 603860, respectively) and familial juvenile hyperuricemic nephropathy (MIM 162000).