Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

被引：39

作者：

Halliday, DJ

Hutchinson, S

Lonie, L

Hurst, JA

Firth, H

Handford, PA

Wordsworth, P

机构：

[1] Churchill Hosp, Dept Clin Genet, Oxford OX3 7IJ, England

[2] Univ Oxford, Dept Biochem, Div Mol & Cellular Biochem, Oxford OX1 3QU, England

[3] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

[4] Univ Cambridge, Dept Med Genet, Cambridge CB2 2QQ, England

来源：

关键词：

D O I：

10.1136/jmg.39.8.589

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：589 / 593

页数：5