Article
The Mutation, a Key Determinant of Phenotype in ADPKD
17 May 2013
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common monogenic diseases (frequency 1:500–1000) and a classic dominant disease with a penetrance of practically 100%, if defined as the development of multiple bilateral cysts in a family member that inherits a defined mutation. However, the severity of disease, even in mutation characterized cases, varies greatly. At one extreme are those...
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