Haploinsufficiency of PMP22 causes hereditary neuropathy with liability to pressure palsies. However, the biological functions of the PMP22 protein in humans have largely been unexplored owing to the absence of patients with PMP22-null mutations.
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, Non-P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
