A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome

A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome

Abstract Background Primary hyperoxaluria(PH)is a rare autosomal recessive genetic disease that contains three subtypes (PH1, PH2 and PH3). Approximately 80% of PH patients has been reported as subtype PH1, this subtype of PH has been related to a higher risk of renal failure at any age. Several gen...

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Bibliographic Details
Main Authors: Chang Bao Xu, Xu Dong Zhou, Hong En Xu, Yong Li Zhao, Xing Hua Zhao, Dan Hua Liu, Yong An Tian, Xin Xin Hu, Jing Yuan Guan, Jian Cheng Guo, Wen Xue Tang, Xia Xue
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Nephrology
Subjects:
Primary hyperoxaluria type1
AGXT
Local genome reference
Whole-exome sequencing, case report
Online Access:https://doi.org/10.1186/s12882-021-02276-3

Internet

https://doi.org/10.1186/s12882-021-02276-3

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