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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954066/
https://www.ncbi.nlm.nih.gov/pubmed/29589097
http://dx.doi.org/10.1007/s00401-018-1841-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954066/
https://www.ncbi.nlm.nih.gov/pubmed/29589097
http://dx.doi.org/10.1007/s00401-018-1841-z

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