Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3＇ fibrillin-1 gene mutations with phenotype

GAO Ling-gen; ZHANG Lin; SONG Lei; WANG Hu; CHANG Qian; WU Yong-bo; HUI Ru-tai; ZHOU Xian-liang

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Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3＇ fibrillin-1 gene mutations with phenotype

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^10F;中华医学杂志：英文版

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《中华医学杂志：英文版》 |2010年第20期|P.2874-2878|共5页
作者
GAO Ling-gen; ZHANG Lin; SONG Lei; WANG Hu; CHANG Qian; WU Yong-bo; HUI Ru-tai; ZHOU Xian-liang;
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作者单位

^pof;

Cardiology;

Fuwai;

Hospital;

and;

Cardiovascular;

Institute,;

Chinese;

Academy;

of;

Medical;

Sciences;

and;

Peking;

Union;

Medical;

College,;

Beijing;

100037,;

China;

^pLaboratory;

for;

Molecular;

Medicine,;

Key;

Laboratory;

for;

Clinical;

Cardiovascular;

Genetics,;

Ministry;

of;

Education;

Fuwai;

Hospital;

and;

Cardiovascular;

Institute,;

Chinese;

Academy;

of;

Medical;

Sciences;

and;

Peking;

Union;

Medical;

College,;

Beijing;

100037,;

China;

^pof;

Cardiovascular;

Surgery;

Fuwai;

Hospital;

and;

Cardiovascular;

institute,-Chinese;

Academy;

of;

Medical;

Sciences;

and;

Peking;

Union;

Medical;

College,;

Beijing;

100037,;

China;

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原文格式 PDF
正文语种 CHI
中图分类基因的结构和突变的分子原理;
关键词
基因突变; 纤维蛋白; 基因组DNA提取; 鉴定; 家族; 表型; 聚合酶链反应; 发病机制;

机译：基因突变;纤维蛋白;基因组DNA提取;鉴定;家族;表型;聚合酶链反应;发病机制;

Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3＇ fibrillin-1 gene mutations with phenotype

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