A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

Por Gooding, R, Colomer, J, King, R, Angelicheva, D, Marns, L, Parman, Y, Chandler, D, Bertranpetit, J, Kalaydjieva, L
Publicado em 2005