Genotype-phenotype severity correlation in a multicentric portuguese cohort of ABCA4-associated retinopathy
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Published:2024-07
Issue:2
Volume:1
Page:100029
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ISSN:2950-2535
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Container-title:AJO International
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language:en
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Short-container-title:AJO International
Author:
Ferreira Catarina CunhaORCID,
Geada Sara,
Marta AnaORCID,
Carreira PedroORCID,
Cabral Diogo,
Carvalho Ana LuísaORCID,
Silva Rufino,
Murta JoaquimORCID,
Marques João PedroORCID
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2. Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants;Quazi;J Biol Chem,2013
3. ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer;Quazi;Nat Commun,2012
4. A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations;Fujinami;Invest Ophthalmol Vis Sci,2013
5. Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations;Cremers;Prog Retin Eye Res,2020
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