Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 25, Issue 4, April 2015, Pages 359-360

Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza,