Severe Female Carrier Phenotype in an Irish Pedigree with Novel Massive Deletion in the CHM Gene

被引：0
|
作者：
Zhu, Julia [1 ]
Stephenson, Kirk [1 ]
Dockery, Adrian [2 ]
Wynne, Niamh C. [3 ]
Farrar, G. Jane [2 ]
Kenna, Paul F. [2 ,3 ]
Silvestri, Giuliana [4 ]
Keegan, David J. [1 ]
机构：
[1] Mater Misericordiae Univ Hosp, Mater Retinal Res Grp, Dublin, Ireland
[2] Trinity Coll Dublin, Sch Genet & Microbiol, Dublin, Ireland
[3] Royal Victoria Eye & Ear Hosp, Res Fdn, Dublin, Ireland
[4] Belfast Hlth & Social Care Trust, Belfast, Antrim, North Ireland
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2019年 / 60卷 / 09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：
5426
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页数：3
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