Browsing Articles by Subject "Genetic modifier"

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A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease

Ali, Hamad; Hussain, Naser; Naim, Medhat; Zayed, Mohamed; Al-Mulla, Fahd; Kehinde, Elijah; Seaburg, Lauren; Sundsbak, Jamie; Harris, Peter (Ali et al. BMC Nephrology, 2015)

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant ...