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Journal Abstract Search


269 related items for PubMed ID: 24676353

  • 21. Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
    Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K.
    Vis Neurosci; 2006; 23(3-4):395-402. PubMed ID: 16961972
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  • 22. Photoreceptor structure and function in patients with congenital achromatopsia.
    Genead MA, Fishman GA, Rha J, Dubis AM, Bonci DM, Dubra A, Stone EM, Neitz M, Carroll J.
    Invest Ophthalmol Vis Sci; 2011 Sep 21; 52(10):7298-308. PubMed ID: 21778272
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  • 23. Clinical and genetic features of Hungarian achromatopsia patients.
    Varsányi B, Wissinger B, Kohl S, Koeppen K, Farkas A.
    Mol Vis; 2005 Nov 17; 11():996-1001. PubMed ID: 16319819
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  • 33. Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.
    Katta M, Georgiou M, Singh N, Kalitzeos A, Dubra A, Carroll J, Michaelides M.
    Invest Ophthalmol Vis Sci; 2024 Oct 01; 65(12):6. PubMed ID: 39365261
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  • 34. Six Years and Counting: Restoration of Photopic Retinal Function and Visual Behavior Following Gene Augmentation Therapy in a Sheep Model of CNGA3 Achromatopsia.
    Ofri R, Averbukh E, Ezra-Elia R, Ross M, Honig H, Obolensky A, Rosov A, Hauswirth WW, Gootwine E, Banin E.
    Hum Gene Ther; 2018 Dec 01; 29(12):1376-1386. PubMed ID: 29926749
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  • 36. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
    Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S, ACHM Study Group.
    Hum Mutat; 2017 Nov 01; 38(11):1579-1591. PubMed ID: 28795510
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