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原发性远端肾小管酸中毒合并大前庭水管综合征突变基因分析 被引量:5

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摘要 原发性远端肾小管酸中毒(dRTA)是一罕见的遗传性疾病。我们曾对常染色体显性遗传性dRTA和隐性遗传性dRTA进行描述和突变基因研究。
出处 《中华肾脏病杂志》 CAS CSCD 北大核心 2013年第9期711-712,共2页 Chinese Journal of Nephrology
基金 国家自然科学基金面上项目(81170653) 山东省优秀中青年科学家科研奖励基金(BS2010YY011) 青岛市科技计划(12-1-4-2-(21)-jch&13-1-3-40-nsh)
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