A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD). This study aimed to identify the genetic causes in a Chinese pedigree with ARPKD and design a minigene construct of the PKHD1 gene to investigate...

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Bibliographic Details
Main Authors: Mingzhu Miao, Liqun Feng, Jue Wang, Cheng Xu, Xiaotian Su, Guoying Zhang, Shoulian Lu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Genetics
Subjects:
autosomal recessive polycystic kidney disease
PKHD1
whole-exome sequencing
intronic variant
minigene
aberrant splicing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1207772/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1207772/full

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