Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease

Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease

IntroductionAutosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder. The PKD1 gene is responsible for the majority of ADPKD cases, and the mutations in this gene exhibit high genetic diversity. This study aimed to investigate the association between genotype and phenotype i...

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Bibliographic Details
Main Authors: Jing Zhuang, Ailima Aierken, Dilina Yalikun, Jun Zhang, Xiaoqin Wang, Yongfang Ren, Xuefei Tian, Hong Jiang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Medicine
Subjects:
second-generation sequencing
autosomal dominant polycystic kidney disease
PKD1 gene mutation
genotype-phenotype characteristics
genetic kidney disease
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2023.1268307/full

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https://www.frontiersin.org/articles/10.3389/fmed.2023.1268307/full

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