Two novel (M233T and ρ278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations …
Eleven early-onset dementia families, all with affected individuals who have either
presented clinical symptoms of early onset familial Alzheimer's disease (EOFAD) or have
been confirmed to have EOFAD by autopsy, and two early onset cases with biopsy-
confirmed AD pathology, were screened for missense mutations in the entire coding region
of presenilin-1 (PS-1) and-2 (PS-2) genes. Missense mutations were detected by direct
sequence analysis of PCR products amplified from genomic DNA templates of affected …
presented clinical symptoms of early onset familial Alzheimer's disease (EOFAD) or have
been confirmed to have EOFAD by autopsy, and two early onset cases with biopsy-
confirmed AD pathology, were screened for missense mutations in the entire coding region
of presenilin-1 (PS-1) and-2 (PS-2) genes. Missense mutations were detected by direct
sequence analysis of PCR products amplified from genomic DNA templates of affected …