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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Sci Rep
Egile Nagusiak: Wang, Cui, Lu, Jingru, Lang, Yanhua, Liu, Ting, Wang, Xiaoling, Zhao, Xiangzhong, Shao, Leping
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5028881/
https://ncbi.nlm.nih.gov/pubmed/27644547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33652
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