Associated Papers
Prenatal Diagnosis and Postnatal Outcomes of Fetal ADPKD: A Single-Center Retrospective Cohort Study.
Kim S et al.
Medicina (kaunas, Lithuania), 2025
Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.
Liu X et al.
Bmc Genomics, 2023
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Wang T et al.
Molecular Genetics & Genomic Medicine, 2019
Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease.
Fang Z et al.
Gene, 2017
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
Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.
Qi XP et al.
Gene, 2013
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