Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

    May 2020 in “ International Journal of Molecular Sciences ”
    Aneta Ścieżyńska, Marta Soszyńska, Michał Komorowski … Jacek Malejczyk
    Studysummary This study suggests that human hair follicles may serve as a model for molecular analysis of ABCA4 gene splice-site variants, facilitating research into the pathogenicity of ABCA4 retinopathies.
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    Research cited in this study 1

    1. Differential Expression and Functionality of ATP-Binding Cassette Transporters in the Human Hair Follicle British Journal of Dermatology · 2014