Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing

Theuriet J, Fernandez-Eulate G, Latour P, Stojkovic T, Masingue M, Vidoni L, Bernard E, Jacquier A, Schaeffer L, Salort-Campana E, Chanson JB, Pakleza AN, Kaminsky AL, Svahn J, Manel V, Bouhour F, Pégat A

European journal of human genetics : EJHG