PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
Nelis
E
E
Holmberg
B
B
Adolfsson
R
R
Holmgren
G
G
van Broeckhoven
C
C
D016475:3T3 Cells; D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008715:Methionine; D051379:Mice; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D013548:Sweden; D013912:Threonine
D009185:Myelin Proteins; C073687:PMP22 protein, human; C489545:Pmp22 protein, mouse; D013912:Threonine; D008715:Methionine