A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease
- 1 September 1997
- journal article
- Published by Elsevier in Neuroscience Letters
- Vol. 234 (1) , 3-6
- https://doi.org/10.1016/s0304-3940(97)00603-4
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- Apolipoprotein E and α1-Antichymotrypsin Genotypes and Age of Onset of Familial Alzheimer’s DiseaseDementia and Geriatric Cognitive Disorders, 1998
- The presenilin genes: a new gene family involved in Alzheimer disease pathologyHuman Molecular Genetics, 1996
- The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD familiesNature Genetics, 1995
- A Familial Alzheimer's Disease Locus on Chromosome 1Science, 1995
- Amyloid precursor protein mutation at codon 713 (Ala → Val) does not cause schizophrenia: non-pathogenic variant found at codon 705 (silent)Neuroscience Letters, 1995
- Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene fails to identify new mutations in Swedish Alzheimer's disease patientsHuman Molecular Genetics, 1993
- How sensitive is PCR-SSCP?Human Mutation, 1993
- A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloidNature Genetics, 1992
- Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's diseaseNature, 1991
- Clinical diagnosis of Alzheimer's diseaseNeurology, 1984