A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

@article{Mullan1992APM,
  title={A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of $\beta$–amyloid},
  author={Mike Mullan and Fiona Crawford and Karin Axelman and Henry Houlden and Lena Lilius and Bengt Winblad and Lars Lannfelt},
  journal={Nature Genetics},
  year={1992},
  volume={1},
  pages={345-347}
}
Mutations at codon 717 in exon 17 of the β–amyloid precursor protein (APP) gene have previously been shown to segregate with early onset Alzheimer's disease in some families. We have identified a double mutation at codons 670 and 671 (APP 770 transcript) in exon 16 which co–segregates with the disease in two large (probably related) early–onset Alzheimer's disease families from Sweden. Two base pair transversions (G to T, A to C) from the normal sequence predict Lys to Asn and Met to Leu amino… Expand
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TLDR
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