Associated Papers
Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.
Orisio S et al.
Nephron, 2024
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.
Kim H et al.
Scientific Reports, 2019
31740684 (PubMed )
Supplement: 41598_2019_52474_MOESM1_ESM.pdf
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.
Lu X et al.
Frontiers in Pharmacology, 2019
30787879 (PubMed )
Supplement: Data_Sheet_1.PDF
Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.
Kinoshita M et al.
Plos One, 2016
27835667 (PubMed )
Supplement: pone.0166288.s005.xls › S3_Table
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2007
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