Article
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene.
Neuroscience letters - 14 Sept 1992
Vaula G, Mortilla M, Tupler R, Lukiw W, Tanzi R, Nee L, Polinsky R, Foncin J F, Bruni A C, Montesi M P
Abstract excerpt
Mutations in the beta-amyloid precursor protein (APP) gene have been associated with both familial Alzheimer disease (FAD) and with hereditary cerebral haemorrhage. The polymerase chain reaction was used to both amplify and sequence exon 4 of the APP gene from genomic DNA of subjects with FAD and normal control subjects. A novel, rare, conservative DNA sequence variant was discovered at nucleotide 459 of codon...
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