BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Auteurs

Perrine Pennamen, Linh Le, Angèle Tingaud-Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice, Valentine Coste, Jean-Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cédric Delevoye, Fanny Morice Picard, Bruno Delobel, Michael S. Marks, Benoit Arveiler