PEX6 mutation causing deaf blindness with enamel dysplasia and microcephaly

被引：0
|
作者：
Bolz, Hanno Joern [1 ,2 ]
Heller, Raoul [2 ]
Thoenes, Michaela [2 ]
Nuernberg, Gudrun [3 ,4 ]
Nuernberg, Peter [3 ,4 ,5 ]
Karnati, Srikanth [6 ]
Swan, Daniel [7 ]
Baumgart-Vogt, Eveline [6 ]
Zaki, Maha [8 ]
机构：
[1] Bioscientia, Ctr Human Genet, Ingelheim, Germany
[2] Univ Hosp Cologne, Inst Human Genet, Cologne, Germany
[3] Univ Cologne, CCG, D-50931 Cologne, Germany
[4] Univ Cologne, CMMC, D-50931 Cologne, Germany
[5] Univ Cologne, Cologne Excellence Cluster Cellular Stress Respon, D-50931 Cologne, Germany
[6] Univ Giessen, Inst Anat & Cell Biol, D-35390 Giessen, Germany
[7] Oxford Gene Technol, Computat Biol Grp, Oxford, England
[8] Natl Res Ctr, Dept Clin Genet, Cairo, Egypt
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2015年 / 56卷 / 07期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
5986
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页数：3
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