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...

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Vydáno v:Acta Neuropathol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2018
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Original Paper
On-line přístup: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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