Condition: Hereditary liability to pressure palsies


rs104894623 in PMP22 gene and Hereditary liability to pressure palsies PMID 12796555 2003 HNPP due to a novel missense mutation of the PMP22 gene.

PMID 9748013 1998 A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.

PMID 15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

PMID 15205993 2004 A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.