引用本文:章振林.基因突变与代谢性骨病[J].中国临床新医学,2018,11(12):1177-1180.
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基因突变与代谢性骨病
章振林
200233 上海,上海交通大学附属第六人民医院骨质疏松和骨病科,骨代谢病和遗传研究室
摘要:
[摘要] 该文重点介绍了遗传性代谢性骨病的病因学和分类,对于临床疑诊患者,应该开展致病基因的检测以便确诊。近年二代测序技术的广泛应用,大大推进了发现新致病基因的进程。
关键词:  代谢性骨病  基因突变  二代顺序
DOI:10.3969/j.issn.1674-3806.2018.12.01
分类号:R 446.9
基金项目:国家自然科学基金项目(编号:81570794)
Gene mutation and metabolic bone diseases
ZHANG Zhen-lin
Department of Osteoporosis and Bone Disease, Metabolic Bone Disease and Genetic Research Unit, the Sixth People′s Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, China
Abstract:
[Abstract] This paper focuses on the etiology and classification of inherited metabolic bone diseases. For clinically suspected patients, the identification of pathogenic genes should be carried out to confirm the diagnosis. Especially in recent years, the wide application of next-generation sequencing technology has greatly promoted the discovery of new pathogenic genes.
Key words:  Metabolic bone diseases  Gene mutation  Next-generation sequencing