title: Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
authors.forename: G
authors.initials: G
authors.lastname: Karadima
authors.forename: M
authors.initials: M
authors.lastname: Panas
authors.forename: P
authors.initials: P
authors.lastname: Floroskufi
authors.forename: N
authors.initials: N
authors.lastname: Kalfakis
authors.forename: D
authors.initials: D
authors.lastname: Vassilopoulos
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001224:Aspartic Acid / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D041321:Chromosomes, Human, X; D018388:Codon, Terminator / Q000235:genetics; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D010649:Phenylalanine / Q000235:genetics; D011392:Proline / Q000235:genetics; D012694:Serine / Q000235:genetics; D014443:Tyrosine / Q000235:genetics; D014633:Valine / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
chemical_list: D001224:Aspartic Acid; D018388:Codon, Terminator; D017630:Connexins; D007930:Leucine; D010649:Phenylalanine; D011392:Proline; D012694:Serine; D014443:Tyrosine; D014633:Valine; D000097002:Gap Junction beta-1 Protein