Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease-Reference-Cited by-同舟云学术

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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

Published:2008-10-31 Issue:10 Volume:93 Page:1359-1364
ISSN:0007-1161
Container-title:British Journal of Ophthalmology
language:en
Short-container-title:British Journal of Ophthalmology

Author:

Riveiro-Alvarez R,Aguirre-Lamban J,Lopez-Martinez M A.,Trujillo-Tiebas M J.,Cantalapiedra D,Vallespin E,Avila-Fernandez A,Ramos C,Ayuso C

Publisher

BMJ

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Cited by 37 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. Efficient site-specific integration of large genes in mammalian cells via continuously evolved recombinases and prime editing;Nature Biomedical Engineering;2024-06-10

2. Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework;Human Mutation;2023-12-26

3. Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations;Cold Spring Harbor Perspectives in Medicine;2023-07-17

4. Compendium of clinical variant classification for 2,247 uniqueABCA4variants to improve genetic medicine access for Stargardt Disease;2023-04-26

5. Understanding the propensity to undergo genetic testing in patients affected by inherited retinal diseases: a twelve-item questionnaire;Ophthalmic Genetics;2022-10-14

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