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Marfan综合征的分子遗传学研究及其临床应用进展 被引量：1

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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。
作者 陈伟 魏文斌
机构地区 首都医科大学附属北京同仁医院眼科中心
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 )
关键词 MARFAN综合征 遗传学研究 其临床应用 分子 全身性结缔组织病 常染色体显性 基因突变 单基因遗传 致病原因 纤维蛋白 相关蛋白 基因型
分类号 R596 [医药卫生—内科学]
  • 相关文献

参考文献26

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二级参考文献14

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共引文献9

同被引文献56

  • 1朱少华,刘良.Marfan综合征研究进展[J].法医学杂志,2005,21(1):58-60. 被引量：3
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二级引证文献6

国外医学（眼科学分册）
2005年 第3期

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