基因突变导致 LDL受体缺陷 人类基因组计划（human genome project） 疾病相关基因（disease-associated gene） 易感基因（susceptibility gene） 基因病（gene disease）是指基因本身的突变、缺失 或表达调控障碍引起的疾病。
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Objective to explore the disease-associated gene mutation of multiple exostoses by family analysis.
目的：经家系分析探索多发性外生性骨疣的相关基因变异。
Importantly, there was no difference in the presence of known disease-associated gene variants between the longevity and control groups.
关键是，在已知变异基因方面，长寿与控制变量组之间并无差异。
Objective To explore the disease-associated gene mutations in early onset familial type 2 diabetes containing subjects with MODY2(GCK).
目的早发2型糖尿病家系中可能存在MODY2基因（GCK）的致病突变，了解MODY2基因在早发家族性2型糖尿病发病中作用。
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