Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).
Sodeyama
N
N
Iwata
T
T
Ishikawa
K
K
Mizusawa
H
H
Yamada
M
M
Itoh
Y
Y
Otomo
E
E
Matsushita
M
M
Komatsuzaki
Y
Y
D000328:Adult; D000544:Alzheimer Disease / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020336:Paraparesis, Spastic / Q000175:diagnosis / Q000235:genetics*; D053764:Presenilin-1; D020449:Repetitive Sequences, Amino Acid / Q000235:genetics*
D003062:Codon; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1