A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

BACKGROUND: We report the first case of a missense variant in the APC gene that interrupts splicing by creating a new cryptic acceptor site. The variant, c.289G>A, p.(Gly97Arg), is located in exon 3, and qualitative and semi-quantitative RNA splicing analysis reveal that the variant results in sk...

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Detalles Bibliográficos
Autores principales: Djursby, Malene, Wadt, Karin, Frederiksen, Jane Hübertz, Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Hasselby, Jane Preuss, Willemoe, Gro Linno, Hansen, Thomas v. O., Gerdes, Anne-Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140378/
https://www.ncbi.nlm.nih.gov/pubmed/32292534
http://dx.doi.org/10.1186/s13053-020-00140-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140378/
https://www.ncbi.nlm.nih.gov/pubmed/32292534
http://dx.doi.org/10.1186/s13053-020-00140-3

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