ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing-Reference-Cited by-同舟云学术

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ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing

Published:2008-07-08 Issue:9 Volume:46 Page:620-625
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Burgess R,MacLaren R E,Davidson A E,Urquhart J E,Holder G E,Robson A G,Moore A T,Keefe R O,Black G C M,Manson F D C

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 54 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. Bilateral peripheral pigmentary changes in a woman;Clinical Cases in Medical Retina;2025

2. Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1;Ophthalmic Genetics;2024-07-03

3. Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials;Saudi Journal of Ophthalmology;2023-10

4. The Extraordinary Phenotypic and Genetic Variability of Retinal and Macular Degenerations: The Relevance to Therapeutic Developments;Cold Spring Harbor Perspectives in Medicine;2023-08-21

5. Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report;BMC Ophthalmology;2023-04-19

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