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

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 genetic stu...

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Detalles Bibliográficos
Autores principales:	Xu, Chang Bao, Zhou, Xu Dong, Xu, Hong En, Zhao, Yong Li, Zhao, Xing Hua, Liu, Dan Hua, Tian, Yong An, Hu, Xin Xin, Guan, Jing Yuan, Guo, Jian Cheng, Tang, Wen Xue, Xue, Xia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945658/ https://www.ncbi.nlm.nih.gov/pubmed/33691640 http://dx.doi.org/10.1186/s12882-021-02276-3

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