Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.
Karadima
G
G
Panas
M
M
Floroskufi
P
P
Kalfakis
N
N
Vassilopoulos
D
D
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
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