A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade
FIG4 的新突变导致严重的 CMT4J 形式,其中 TRPV4 参与了致病级联
期刊:Journal of Neuropathology and Experimental Neurology
影响因子:3.2
doi:10.1093/jnen/nlx062
Benoit J Gentil, Erin O'Ferrall, Colin Chalk, Luis F Santana, Heather D Durham, Rami Massie