A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
Leung
Conrad L
CL
Nagan
Narasimhan
N
Graham
Thomas H
TH
Liem
Ronald K H
RK
D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D045744:Cell Line, Tumor; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D019084:Fluorescent Antibody Technique, Indirect; D020440:Gene Duplication; D006801:Humans; D008297:Male; D008856:Microscopy, Fluorescence; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D016900:Neurofilament Proteins / Q000235:genetics* / Q000378:metabolism; D012689:Sequence Homology, Nucleic Acid; D014162:Transfection
D016900:Neurofilament Proteins; C044882:neurofilament protein L