Article
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
BMC nephrology - 3 Aug 2012
Robinson Caroline, Hiemstra Thomas F, Spencer Deborah, Waller Sarah, Daboo Laura, Karet Frankl Fiona E, Sandford Richard N
Abstract excerpt
BACKGROUND: ADPKD affects approximately 1:1000 of the worldwide population. It is caused by mutations in two genes, PKD1 and PKD2. Although allelic variation has some influence on disease severity, genic effects are strong, with PKD2 mutations predicting later onset of ESRF by up to 20 years. We therefore screened a cohort of ADPKD patients attending a nephrology out-patient clinic for PKD2 mutations, to identify...
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