Associated Papers
Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17α-hydroxylase/17,20-lyase deficiency.
He R et al.
Steroids, 2025
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
Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.
He WB et al.
Bmc Medical Genetics, 2018
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
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