Rarity of the Alzheimer Disease–Protective APP A673T Variant in the United States

IMPORTANCE: Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of th...

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Vydáno v:JAMA Neurol
Hlavní autoři: Wang, Li-San, Naj, Adam C., Graham, Robert R., Crane, Paul K., Kunkle, Brian W., Cruchaga, Carlos, Gonzalez Murcia, Josue D., Cannon-Albright, Lisa, Baldwin, Clinton T., Zetterberg, Henrik, Blennow, Kaj, Kukull, Walter A., Faber, Kelley M., Schupf, Nicole, Norton, Maria C., Tschanz, JoAnn T., Munger, Ronald G., Corcoran, Christopher D., Rogaeva, Ekaterina, Lin, Chiao-Feng, Dombroski, Beth A., Cantwell, Laura B., Partch, Amanda, Valladares, Otto, Hakonarson, Hakon, St George-Hyslop, Peter, Green, Robert C., Goate, Alison M., Foroud, Tatiana M., Carney, Regina M., Larson, Eric B., Behrens, Timothy W., Kauwe, John S. K., Haines, Jonathan L., Farrer, Lindsay A., Pericak-Vance, Margaret A., Mayeux, Richard, Schellenberg, Gerard D.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4324097/
https://ncbi.nlm.nih.gov/pubmed/25531812
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2014.2157
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