A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.
van Es
M A
MA
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelbergaan 100, 3584 CX, Utrecht, The Netherlands.
Diekstra
F P
FP
Veldink
J H
JH
Baas
F
F
Bourque
P R
PR
Schelhaas
H J
HJ
Strengman
E
E
Hennekam
E A M
EA
Lindhout
D
D
Ophoff
R A
RA
van den Berg
L H
LH
D000368:Aged; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications* / Q000235:genetics*; D001483:Base Sequence; D003704:Dementia / Q000150:complications* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007532:Isoleucine; D008239:Lysine; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012259:Ribonuclease, Pancreatic / Q000235:genetics*
D007532:Isoleucine; C046366:angiogenin; D012259:Ribonuclease, Pancreatic; D008239:Lysine