Identification of a 4 bp deletion (1560del4) in po gene in a family with severe Charcot-Marie-Tooth disease.
Bellone
E
E
Institute of Biology and Genetics, University of Genoa, Italy.
Mandich
P
P
James
R
R
Nelis
E
E
Lamba
L D
LD
Van Broeckhoven
C
C
Ajmar
F
F
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D004594:Electrophysiology; D005091:Exons; D006801:Humans; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction; D017933:Peripheral Nervous System / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D018993:Myelin P0 Protein