PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1
Titel:
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1
Auteur:
Combes, Patricia Bonnet-Dupeyron, Marie-Noelle Gauthier-Barichard, Fernande Schiffmann, Raphael Bertini, Enrico Rodriguez, Diana Armour, John A. L. Boespflug-Tanguy, Odile Vaurs-Barrière, Catherine