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胰岛素受体基因p.H1157R突变导致A型胰岛素抵抗综合征一例 被引量:2

A case of type A insulin resistance syndrome caused by insulin receptor gene mutation p.H1157R
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摘要 笔者报道一例因身材矮小就诊,后发现黑棘皮及高胰岛素血症的11岁女性患儿,采集患儿及家属外周血提取DNA,应用全外显子组测序及Sanger测序对患儿进行致病突变分析。发现患者携带人胰岛素受体基因外显子19杂合错义突变c.3470A>G(p.H1157R),其父母均不携带该突变,符合新生突变。
作者 戴红梅 覃恬恬 龙沁 张勤 金萍 Dai Hongmei;Qin Tiantian;Long Qin;Zhang Qin;Jin Ping(Department of Pediatric,the Third Xiangya Hospital,Central South University,Changsha 410007,China;Department of Endocrinology,the Third Xiangya Hospital,Central South University,Changsha 410007,China)
出处 《中华糖尿病杂志》 CAS CSCD 北大核心 2020年第10期839-841,共3页 CHINESE JOURNAL OF DIABETES MELLITUS
基金 国家自然科学基金(81670730,81100583) 湖南省自然科学基金(2016JJ4103)。
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