A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis.
Leung
Conrad L
CL
Departments of Pathology, College of Physicians and Surgeons, Columbia University, NewYork, NY 10032, USA.
He
Cui Zhen
CZ
Kaufmann
Petra
P
Chin
Steven S
SS
Naini
Ali
A
Liem
Ronald K H
RK
Mitsumoto
Hiroshi
H
Hays
Arthur P
AP
D000328:Adult; D000595:Amino Acid Sequence; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D001483:Base Sequence; D015153:Blotting, Western; D001921:Brain / Q000473:pathology; D002478:Cells, Cultured; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D007381:Intermediate Filament Proteins / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism*; D018613:Microscopy, Confocal; D008969:Molecular Sequence Data; D009046:Motor Neurons / Q000473:pathology; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism*; D016900:Neurofilament Proteins / Q000378:metabolism; D064531:Peripherins; D017354:Point Mutation; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology*; D014162:Transfection
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D016900:Neurofilament Proteins; C578994:PRPH protein, human; D064531:Peripherins; C579005:Prph protein, mouse; C044882:neurofilament protein L