EXT1相关论文
目的 多发性骨软骨瘤(MO)是一种常染色体显性遗传的骨骼疾病。多发性骨软骨瘤是最常见的良性骨肿瘤，往往在儿童期开始产生，并且持续......
Clinical Characteristics of Hereditary Multiple Exostoses: A Retrospective Study of Mainland Chinese
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Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple os
Background Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of......
Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple os
Background Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of......
目的：经家系分析探索多发性外生性骨疣的相关基因变异。方法：采用聚合酶链式反应结合DNA直接测序法检测EXT1以及EXT2基因的突变热点......
Clinical Characteristics of Hereditary Multiple Exostoses： A Retrospective Study of Mainland Chinese
Hereditary multiple exostoses(HME)are an autosomal dominant skeletal disease with wide variations in clinical manifestat......
目的:收集1个遗传性多发性骨软骨瘤(hereditary multiple exostoses,HME)家系所有成员的临床资料,并对HME家系中的所有成员进行EXT......
学位
目的：对2个多发性骨软骨瘤（multiple exostoses）小家系中的先证者进行致病基因EXT1和EXT2编码序列的突变检测,寻找致病性突变。方法：应......
遗传性多发性骨软骨瘤(hereditary multiple osteochondroma)又称遗传性多发性外生骨疣(hereditary multiple exostoses,HME),是骨......
学位
