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：
JOURNAL OF MEDICAL GENETICS | 2002年 / 39卷 / 08期
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
收藏
页码：589 / 593
页数：5
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