A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype

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Authors: Gaël Manes, Willy Joly, Thomas Guignard, Vasily Smirnov, Sylvie Berthemy, Béatrice Bocquet, Isabelle Audo, Christina Zeitz, José Sahel, Chantal Cazevieille, Audrey Sénéchal, Jean-François Deleuze, Hélène Blanché-Koch, Anne Boland, Patrick Carroll, David Geneviève, Xavier Zanlonghi, Carl Arndt, Christian P Hamel, Sabine Defoort-Dhellemmes, Isabelle Meunier

Journal title: Human Molecular Genetics

Journal number: 26/22

Journal publisher: Oxford University Press

Published year: 2017

Published pages: 4367-4374

DOI identifier: 10.1093/hmg/ddx322

ISSN: 0964-6906