Associated Papers
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
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
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.
Phakdeekitcharoen B et al.
Journal of the American Society of Nephrology : Jasn, 2001
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