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早發型阿茲海默病
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【最geek調查組】“我熬夜，我牙口不好，但是我還是很快樂！”“嗯，你離阿茲海默也很快了”
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PSEN2
位點：RS28936379
位點：RS63749851
位點：RS63749884
位點：RS63750215
位點：RS63750666
PSEN1
位點：RS63749824
位點：RS63749885
位點：RS63750082
位點：RS63750218
位點：RS63750526
位點：RS63750577
位點：RS63750590
位點：RS63750599
位點：RS63750687
位點：RS63750815
位點：RS63750886
位點：RS63750900
位點：RS63751037
位點：RS63751141
位點：RS63751144
位點：RS63751163
位點：RS63751223
位點：RS63751229
位點：RS63751235
位點：RS63751320
位點：RS661
APP
位點：RS63750066
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
More missense in amyloid gene
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease
Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
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純合片段分析
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