HYPEROXALURIA

作品数：11被引量：42H指数：4
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相关期刊：《World Journal of Nephrology》《Current Medical Science》《Asian Journal of Urology》《Zoological Research》更多>>
相关基金：国家自然科学基金更多>>
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Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population:Results from a Single Center Study and a Systematic Review被引量：5
《Current Medical Science》2018年第5期749-757,共9页Dun-feng DU Qian-qian LI Chen CHEN Shu-mei SHI Yuan-yuan ZHAO Ji-pin JIANG Dao-wen WANG Hui GUO Wei-jie ZHANG Zhi-shui CHEN 
This work was supported by the grants from the Special Project of Ministry of Health (No.201302009)and the National Natural Science Foundation of China (No. 81700300).
Primary hyperoxaluria type 1(PH1)is a rare but devastating autosomal recessive inherited disease caused by mutations in gene AGXT.Pathogenic mutations of AGXT were mostly reported in Caucasian but infrequently in Asia...
关键词：PRIMARY HYPEROXALURIA TYPE 1 gene SEQUENCING AGXT Chinese POPULATION 
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