A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family

A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a very common hereditary renal disorder. Mutations in PKD1 and PKD2, identified as disease-causing genes, account for 85% and 15% of the ADPKD cases, respectively. Methods: In this study, the mutation analysis of polycystic kidney...

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Bibliographic Details
Main Authors: Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu
Format: Article
Language:English
Published: Wolters Kluwer – Medknow Publications 2024-04-01
Series:Singapore Medical Journal
Subjects:
atypical splice mutation
autosomal dominant polycystic kidney disease
genetic test
pkd genes
Online Access:https://journals.lww.com/10.11622/smedj.2021162
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