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儿童Dent病CLCN5基因突变三例报告并文献复习 被引量:2

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摘要 Dent病是一种罕见的X连锁隐性遗传性肾小管疾病,约65%的Dent病患者被检测出CLCN5基因突变,编码含746个氨基酸的电压门控性Cl-/H+离子交换蛋白C1C-5,称之为Dent病l型;约15%的Dent病由OCRL1基因突变引起,编码磷脂酰肌醇二磷酸(PIP2),称之为Dent病2型;余下约20%Dent病尚未发现致病基因。
出处 《中华肾脏病杂志》 CSCD 北大核心 2017年第6期460-462,共3页 Chinese Journal of Nephrology
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