Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones

Primary hyperoxaluria type 1 (PH1) is a rare genetic disease characterized by excessive oxalate accumulation in plasma and urine, resulting in various phenotypes because of allelic and clinical heterogeneity. This study aimed to detect disease-associated genetic mutations in three PH1 patients in a...

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Detalles Bibliográficos
Autores principales: Wang, Cui, Lu, Jingru, Lang, Yanhua, Liu, Ting, Wang, Xiaoling, Zhao, Xiangzhong, Shao, Leping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5028881/
https://www.ncbi.nlm.nih.gov/pubmed/27644547
http://dx.doi.org/10.1038/srep33652

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