A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease
Hamad Ali(Kuwait University), Peter C. Harris(Mayo Clinic)
Cited by 32
Related Papers
Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease
|The American Journal of Human Genetics|2016|463
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity
|Journal of Clinical Investigation|2012|444
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease
|The American Journal of Human Genetics|2018|310
Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner
|Journal of Clinical Investigation|2015|133