Two novel AGXT mutations cause the infantile form of primary hyperoxaluria type I in a Chinese family: Research on missed mutation

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成果类型：

期刊论文

作者：

Lu, Xiulan;Chen, Weijian;Li, Liping;Zhu, Xinyuan;Huang, Caizhi;...

通讯作者：

Yang, Yongjia;Zhao, Yaowang

作者机构：

[Huang, Caizhi; Zhao, Yaowang; Zhu, Xinyuan; Li, Liping; Yang, Yongjia; Yang, YJ; Zhao, YW; Lu, Xiulan; Chen, Weijian] Univ South China, Hunan Childrens Hosp, HCRI, Lab Genet & Metab, Changsha, Hunan, Peoples R China.

[Lu, Xiulan] Univ South China, Pediat Intens Care Unit, Hunan Childrens Hosp, Changsha, Hunan, Peoples R China.

[Chen, Weijian] Univ South China, Dept Pathol, Hunan Childrens Hosp, Changsha, Hunan, Peoples R China.

[Liu, Saijun] BGI China, Shenzhen, Peoples R China.

[Zhao, Yaowang] Univ South China, Hunan Childrens Hosp, Dept Urinary Surg, Changsha, Hunan, Peoples R China.

通讯机构：

[Yang, YJ; Zhao, YW; Zhao, Yaowang] U

Univ South China, Hunan Childrens Hosp, HCRI, Lab Genet & Metab, Changsha, Hunan, Peoples R China.

Univ South China, Hunan Childrens Hosp, Dept Urinary Surg, Changsha, Hunan, Peoples R China.

语种：

英文

关键词：

AGXT;PH1 infantile type;mutation;nephrocalcinosis;whole exome sequencing

期刊：

Frontiers in Pharmacology

ISSN：

1663-9812

年：

2019

卷：

期：

FEB

页码：

DOI：

10.3389/fphar.2019.00085

基金类别：

This work was supported by the National Natural Science Foundation of China (31501017) and the Key laboratory fund of Hunan Province (2018tP1028 to XL).

机构署名：

本校为第一且通讯机构

院系归属：

医学院

摘要：

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. Three forms of PH1 have been reported. Data on the infantile form of PH1 are currently limited in literature. Despite the fact that China is the most populated country in the world, only a few AGXT mutations have been reported in several Chinese PH1 patients. In the pre...

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Two novel AGXT mutations cause the infantile form of primary hyperoxaluria type I in a Chinese family: Research on missed mutation

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