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Numrering	Referens	Omslagsbild	Hitta
1.	Balbin, Milagros, et al. (författare) A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene 1992 Ingår i: Human Genetics. - 1432-1203. ; 89:5, s. 580-582 Tidskriftsartikel (refereegranskat)abstract 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 population studies of this DNA variation. The mutation, which is silent at the protein level, was present in 2 out of 12 investigated AD patients, in 1 out of 60 non-AD patients and in 1 out of 30 healthy individuals. The mutation can be used as a new marker for linkage studies involving the APP gene, although more comprehensive population studies are required to determine the status of the mutation as a possible risk factor for the development of AD.

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