A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

被引：53

作者：

Burdon, KP

Wirth, MG

Mackey, DA

Russell-Eggitt, IM

Craig, JE

Elder, JE

Dickinson, JL

Sale, MM

机构：

[1] Univ Tasmania, Menzies Ctr Populat Hlth Res, Hobart, Tas, Australia

[2] Wake Forest Univ, Dept Biochem, Sch Med, Winston Salem, NC 27157 USA

[3] Univ Zurich, Dept Ophthalmol, Zurich, Switzerland

[4] Univ Melbourne, Ctr Eye Res Australia, Melbourne, Vic, Australia

[5] Great Ormond St Hosp Sick Children, London WC1N 3JH, England

[6] Flinders Univ S Australia, Dept Ophthalmol, Bedford Pk, SA, Australia

[7] Wake Forest Univ, Dept Internal Med, Sch Med, Winston Salem, NC 27109 USA

[8] Wake Forest Univ, Ctr Human Genom, Sch Med, Winston Salem, NC 27157 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 08期

关键词：

D O I：

10.1136/jmg.2004.018333

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

[No abstract available]

引用

页数：4

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