Functional Characterization of Splice Variants in the Diagnosis of Albinism
Modibo Diallo,Cecile Courdier,Elina Mercier, Angele Sequeira, Alicia Defay-Stinat,Claudio Plaisant,Shahram Mesdaghi,Daniel Rigden,Sophie Javerzat,Eulalie Lasseaux, Laetitia Bourgeade,Severine Audebert-Bellanger,Helene Dollfus,Smail Hadj-Rabia,Fanny Morice-Picard,Manon Philibert, Mohamed Kole Sidibe,Vasily Smirnov, Ousmane Sylla,Vincent Michaud,Benoit Arveiler International Journal of Molecular Sciences（2024）
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albinism,splice variants,exon skipping,pseudoexon,RT-PCR,minigene assay
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