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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-06-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1207772/full |