An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (ABCA7) are high penetrant risk factors of Alzheimer’s disease (AD). The influence of other genetic variants in ABCA7 and downstream functional mechanisms, however, is poorly understood. To address this kn...

詳細記述

保存先:
書誌詳細
出版年:Acta Neuropathol
主要な著者: De Roeck, Arne, Duchateau, Lena, Van Dongen, Jasper, Cacace, Rita, Bjerke, Maria, Van den Bossche, Tobi, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter P., Engelborghs, Sebastiaan, Van Broeckhoven, Christine, Sleegers, Kristel
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2018
主題:
Original Paper
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5954066/
https://ncbi.nlm.nih.gov/pubmed/29589097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-018-1841-z
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