A Homozygous Frameshift Mutation inBEST1Causes the Classical Form of Best Disease in an Autosomal Recessive Mode-Reference-Cited by-同舟云学术

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A Homozygous Frameshift Mutation inBEST1Causes the Classical Form of Best Disease in an Autosomal Recessive Mode

Published:2011-07-18 Issue:8 Volume:52 Page:5332
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Bitner Hanna¹,Mizrahi-Meissonnier Liliana¹,Griefner Gabriel¹,Erdinest Inbar¹,Sharon Dror¹,Banin Eyal¹

Affiliation:

1. From the Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 41 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. An Overview of Best Disease;International Journal of Innovative Science and Research Technology (IJISRT);2024-07-11

2. Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population;Investigative Opthalmology & Visual Science;2024-02-27

3. Typical best vitelliform dystrophy secondary to biallelic variants in BEST1;Ophthalmic Genetics;2023-03-13

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

5. Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy;Translational Vision Science & Technology;2022-09-26

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