@article{0285cd4fefbc43f1aad5af70ce39d7ab,
title = "The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families",
abstract = "Genetic linkage studies place a gene causing early onset familial Alzheimer{\textquoteright}s disease (FAD) on chromosome 14q24.3 (refs 1–4). Five mutations within the S182 (Presenilin 1: PS–1) gene, which maps to this region, have recently been reported in several early onset FAD kindreds5. We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM26 (Presenilin 2: PS-2) gene.",
author = "{The Alzheimer{\textquoteright}s Disease Collaborative Group} and Clark, {R. F.} and M. Hutton and M. Fuldner and S. Froelich and E. Karran and C. Talbot and R. Crook and C. Lendon and G. Prihar and C. He and K. Korenblat and A. Martinez and M. Wragg and F. Busfield and Behrens, {M. I.} and A. Myers and J. Norton and J. Morris and N. Mehta and C. Pearson and S. Lincoln and M. Baker and K. Duff and C. Zehr and J. Perez-Tur and H. Houlden and A. Ruiz and J. Ossa and F. Lopera and M. Arcos and L. Madrigal and J. Collinge and C. Humphreys and A. Ashworth and S. Sarner and N. Fox and R. Harvey and A. Kennedy and P. Roques and Cline, {R. T.} and Philips, {C. A.} and Venter, {J. C.} and L. Forsell and K. Axelman and L. Lilius and J. Johnston and R. Cowburn and M. Viitanen and B. Winblad and D. Dickson",
year = "1995",
month = oct,
doi = "10.1038/ng1095-219",
language = "English (US)",
volume = "11",
pages = "219--222",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "2",
}