Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients

Background: Primary hyperoxaluria (PH) is a rare genetic disorder characterized by excessive accumulation of oxalate in plasma and urine, resulting in various phenotypes due to allelic and clinical heterogeneity. This study aimed to analyze the genotype of 21 Chinese patients with primary hyperoxalu...

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Detalles Bibliográficos
Autores principales: Xin, Qing, Dong, Yameng, Guo, Wencong, Zhao, Xiangzhong, Liu, Zhiying, Shi, Xiaomeng, Lang, Yanhua, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150119/
https://www.ncbi.nlm.nih.gov/pubmed/37139236
http://dx.doi.org/10.3389/fgene.2023.1124745

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10150119/
https://www.ncbi.nlm.nih.gov/pubmed/37139236
http://dx.doi.org/10.3389/fgene.2023.1124745

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