Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease | Zendy

XiuFeng Huang | Zendy; Jian-Yang Mao | Zendy; Zhiqin Huang | Zendy; Feng-Qin Rao | Zendy; Feifei Cheng | Zendy; Fenfen Li | Zendy; Qingfeng Wang | Zendy; ZiBing Jin | Zendy

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Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease

Author(s) -

XiuFeng Huang,

Jian-Yang Mao,

Zhiqin Huang,

Feng-Qin Rao,

Feifei Cheng,

Fenfen Li,

Qingfeng Wang,

ZiBing Jin

Publication year - 2017

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-20705

Subject(s) - copy number variation , gene duplication , genetics , biology , gene , disease , gene dosage , genome , mendelian inheritance , medicine , pathology , gene expression

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders that plays a crucial role in the etiology of blindness across the world. Molecular genetic diagnosis of IRD remains extremely complex and challenging because mutations are only detected in 40% to 60% of cases. In this study, we aimed to dissect the contributions of copy number variations (CNVs) in IRD patients.

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