Alternative splicing in a presenilin 2 variant associated with Alzheimer disease

OBJECTIVE: Autosomal‐dominant familial Alzheimer disease (AD) is caused by by variants in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP). Previously, we reported a rare PSEN2 frameshift variant in an early‐onset AD case (PSEN2 p.K115Efs*11). In this study, we charact...

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Publicat a:Ann Clin Transl Neurol
Autors principals: Braggin, Jacquelyn E., Bucks, Stephanie A., Course, Meredith M., Smith, Carole L., Sopher, Bryce, Osnis, Leah, Shuey, Kiel D., Domoto‐Reilly, Kimiko, Caso, Christina, Kinoshita, Chizuru, Scherpelz, Kathryn P., Cross, Chloe, Grabowski, Thomas, Nik, Seyyed H. M., Newman, Morgan, Garden, Gwenn A., Leverenz, James B., Tsuang, Debby, Latimer, Caitlin, Gonzalez‐Cuyar, Luis F., Keene, Christopher Dirk, Morrison, Richard S., Rhoads, Kristoffer, Wijsman, Ellen M., Dorschner, Michael O., Lardelli, Michael, Young, Jessica E., Valdmanis, Paul N., Bird, Thomas D., Jayadev, Suman
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Research Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6469258/
https://ncbi.nlm.nih.gov/pubmed/31020001
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.755
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