Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene.
Hashimoto
Satoru
S
Suga
Tomohiro
T
Kudo
Erina
E
Ihn
Hironobu
H
Uchino
Makoto
M
Tateishi
Satoshi
S
D017668:Age of Onset; D003057:Cockayne Syndrome / Q000150:complications* / Q000235:genetics*; D004265:DNA Helicases / Q000096:biosynthesis* / Q000235:genetics; D004252:DNA Mutational Analysis; D004260:DNA Repair; D045643:DNA Repair Enzymes / Q000096:biosynthesis* / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000150:complications* / Q000235:genetics*; D018384:Oxidative Stress; D000075223:Poly-ADP-Ribose Binding Proteins; D014466:Ultraviolet Rays
D000075223:Poly-ADP-Ribose Binding Proteins; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes