A NovelBEST1Mutation in Autosomal Recessive Bestrophinopathy-Reference-Cited by-同舟云学术

A NovelBEST1Mutation in Autosomal Recessive Bestrophinopathy

Published:2015-12-28 Issue:13 Volume:56 Page:8141
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Lee Christopher Seungkyu¹,Jun Ikhyun²,Choi Seung-il³,Lee Ji Hwan¹,Lee Min Goo⁴,Lee Sung Chul¹,Kim Eung Kweon⁵

Affiliation:

1. The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea

2. The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea 2Department of Pharmacology, Yonsei University College of Medicine, Seoul, Korea 3Brain Korea 21 PLUS Project for Medical Sciences, Severanc

3. Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul, Korea

4. Department of Pharmacology, Yonsei University College of Medicine, Seoul, Korea 3Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, Korea

5. The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea 3Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, Kor

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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1. Very Large Cystoid Macular Lesions Identified Using Outlier Analysis of Genetically Confirmed Inherited Retinal Disease Cases;Ophthalmic Genetics;2023-05-29

2. Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations;Vision Research;2023-02

3. A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy;BMC Ophthalmology;2022-12-16

4. Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation;International Journal of Molecular Sciences;2022-07-04

5. Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy;Genes;2022-07-04