Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)

Baudot, CécileEsteve, ClothildeCastro, ChristelPoitelon, YannickMas, CamilleHamadouche, TarikEl-Rajab, MaryamLévy, NicolasMegarbané, AndréDelague, Valérie2015-06-112015-06-11201210859489https://dspace.univ-boumerdes.dz123456789/1718enCharcot-Marie-Tooth diseaseDisease geneFRABINHomozygous mutationMissensePeripheral nerveTwo novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)Article