Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.
Neurogenetics Laboratory, Born Bunge Foundation, University of Antwerp (UIA), Belgium.
E
E
Nelis
V
V
Timmerman
P
P
De Jonghe
C
C
Van Broeckhoven
D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D004247:DNA; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*
D009185:Myelin Proteins; C073687:PMP22 protein, human; D004247:DNA