Functional Characterization of Splice Variants in the Diagnosis of Albinism
Diallo, Modibo, Courdier, Cécile, Mercier, Elina, Sequeira, Angèle, Defay-Stinat, Alicia, Plaisant, Claudio, Mesdaghi, Shahram, Rigden, Daniel, Javerzat, Sophie, Lasseaux, Eulalie, Bourgeade, Laetitia, Audebert-Bellanger, Séverine, Dollfus, Hélène, Hadj-Rabia, Smail, Morice-Picard, Fanny, Philibert, Manon, Sidibé, Mohamed Kole, Smirnov, Vasily, Sylla, Ousmane, Michaud, Vincent, Arveiler, Benoit
Published in International journal of molecular sciences (08.08.2024)
Published in International journal of molecular sciences (08.08.2024)
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Journal Article
A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1
Diallo, Modibo, Defay-Stinat, Alicia, Gindensperger, Victor, Sequeira, Angèle, Trimouille, Aurélien, Javerzat, Sophie, Bourgeade, Laetitia, Plaisant, Claudio, Lasseaux, Eulalie, Michaud, Vincent, Drumare, Isabelle, Arveiler, Benoit
Published in Gene (30.01.2025)
Published in Gene (30.01.2025)
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