Large Gene Deletion and Changes in Corneal Endothelial Cells in a Family With Choroideremia-Reference-Cited by-同舟云学术

Large Gene Deletion and Changes in Corneal Endothelial Cells in a Family With Choroideremia

Published:2015-03-31 Issue:3 Volume:56 Page:1887
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Lee Shih-Yun¹,Yu Wei-Kuang²,Lin Po-Kang³

Affiliation:

1. Department of Ophthalmology, Faculty of Medicine, National Yang-Ming University, Taipei, Taiwan 2Department of Ophthalmology, Cardinal Tien Hospital, New Taipei City, Taiwan 3School of Medicine, College of Medicine, Fu Jen Catholic University, New Taipei

2. Department of Ophthalmology, Faculty of Medicine, National Yang-Ming University, Taipei, Taiwan 4Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan

3. Department of Ophthalmology, Faculty of Medicine, National Yang-Ming University, Taipei, Taiwan 4Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan 5Graduate Institute of Biomedical Electronics and Bioinformatics, National Taiwa

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel large multi-gene deletion in syndromic choroideremia;Ophthalmic Genetics;2024-09-10

2. Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription;Genes;2021-07-22

3. Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants;Human Genome Variation;2020-10-23

4. Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia;Bioscience Reports;2020-05

5. Scleral pits represent degeneration around the posterior ciliary arteries and are signs of disease severity in choroideremia;Eye;2019-09-25