Marfan综合征的分子遗传学研究及其临床应用进展
被引量:1
摘要
Marfan综合征是一种常染色体显性单基因遗传的全身性结缔组织病,微纤维蛋白-1(FBN1)基因突变是其致病原因。本文从FBN1及其基因、FBN1基因突变、MFS基因型与表型的关系、其分子遗传学研究的临床应用及一些其它微纤维相关蛋白的研究几个方面,概述Marfan综合征的分子遗传学研究及其临床应用的进展。
出处
《国外医学(眼科学分册)》
2005年第3期175-177,共3页
Foreign Medical Sciences(Section of Ophthalmology )
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