Associated Papers
Complexities in Variant Analysis, Classification, and Interpretation in Kidney Disease-Related Genes.
Westemeyer M et al.
Seminars in Nephrology, 2025
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Borràs DM et al.
Human Mutation, 2017
28378423 (PubMed )
Supplement: HUMU-38-870-s001.pdf
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
27499327 (PubMed )
Supplement: srep30850-s2.xlsx › Sheet1
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Tan YC et al.
Human Mutation, 2009
How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.
Symmons O et al.
Molecular Biology and Evolution, 2008
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
Inoue S et al.
Human Mutation, 2002
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
Garcia-Gonzalez MA et al.
Molecular Genetics and Metabolism, 0
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