Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis.
Sierks D et al.
Jhep Reports : Innovation in Hepatology, 2022
36246085 (PubMed )
Supplement: mmc1.pdf
Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
Gonzalez-Paredes FJ et al.
Gene, 2014
Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease.
Neumann HP et al.
Cerebrovascular Diseases Extra, 2012
How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.
Symmons O et al.
Molecular Biology and Evolution, 2008
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
Watnick TJ et al.
Human Molecular Genetics, 1997
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