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

引用

页数：3

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