Familial cases presenting very early onset autosomal dominant Alzheimer's disease with I143T in presenilin-1 gene: implication for genotype-phenotype correlation.
Arai
Noritoshi
N
Kishino
Atsushi
A
Takahashi
Yuji
Y
Morita
Daiji
D
Nakamura
Koichiro
K
Yokoyama
Takahiro
T
Watanabe
Tomoji
T
Ida
Masayoshi
M
Goto
Jun
J
Tsuji
Shoji
S
D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D015643:Erythromycin Ethylsuccinate; D005260:Female; D005799:Genes, Dominant; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D053764:Presenilin-1 / Q000235:genetics*
C508853:PSEN1 protein, human; D053764:Presenilin-1; D015643:Erythromycin Ethylsuccinate