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Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysis of ADPKD in a 19‐year‐old female proband and her father. The proband had a PKD1...
Tan Y‐C, Blumenfeld J, Michaeel A, Donahue S, Balina M, Parker T, Levine D, Rennert H. Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal‐dominant polycystic kidney disease.
Autosomal‐dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder characterized by abnormal proliferation of renal tubular epithelium, leading to massive kidney enlargement and...
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