Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene

Abstract Background Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease. Our goal is to analyze intronic variants in PKHD1 at the mRNA level. Results...

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Bibliographic Details
Main Authors: Yiyin Zhang, Ran Zhang, Xiaomeng Shi, Xuyan Liu, Changying Li, Yan Zhang, Zhi Wang, Dan Qiao, Fengjiao Pan, Bingying Zhang, Ning Xu, Bingzi Dong, Leping Shao
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Human Genomics
Subjects:
PKHD1 gene
Intronic variant
Minigene
pre-mRNA splicing
Online Access:https://doi.org/10.1186/s40246-024-00675-9
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https://doi.org/10.1186/s40246-024-00675-9

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