A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene.

doi:10.1007/BF00219191

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Article

A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene.

Human genetics - 1 Jul 1992

Balbín M, Abrahamson M, Gustafson L, Nilsson K, Brun A, Grubb A

Abstract excerpt

A novel mutation, a C to T transition at base pair 2124 in exon 17 of the amyloid beta-protein precursor (APP) gene, has been identified by direct sequencing of amplified DNA from two Alzheimer's disease (AD) patients. A simple oligonucleotide-hybridization procedure was developed to allow popula...

Topics

Alzheimer Disease
Amyloid beta-Protein Precursor
Base Sequence
Chromosome Aberrations
Codon
Genes
Genetic Markers
Humans
Molecular Sequence Data
Mutation
Nucleic Acid Hybridization
Polymerase Chain Reaction

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