Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2.
Briani
Chiara
C
Taioli
Federica
F
Lucchetta
Marta
M
Bombardi
Roberto
R
Fabrizi
Gian Maria
GM
D000328:Adult; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D051767:Early Growth Response Protein 2 / Q000235:genetics*; D005260:Female; D006801:Humans
D003062:Codon; C497326:EGR2 protein, human; D051767:Early Growth Response Protein 2; D001120:Arginine; D003545:Cysteine