title: PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: B
authors.initials: B
authors.lastname: Holmberg
authors.forename: R
authors.initials: R
authors.lastname: Adolfsson
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: C
authors.initials: C
authors.lastname: van Broeckhoven
mesh_terms: 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
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; C489545:Pmp22 protein, mouse; D013912:Threonine; D008715:Methionine