Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

A subset of DNA variants causes genetic disease through aberrant splicing. Experimental splicing assays, either RT-PCR analyses of patient RNA or functional splicing reporter minigene assays, are required to evaluate the molecular nature of the splice defect. Here, we present minigene assays perform...

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Detalles Bibliográficos
Autores principales: van der Klift, Heleen M, Jansen, Anne M L, van der Steenstraten, Niki, Bik, Elsa C, Tops, Carli M J, Devilee, Peter, Wijnen, Juul T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521968/
https://www.ncbi.nlm.nih.gov/pubmed/26247049
http://dx.doi.org/10.1002/mgg3.145

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521968/
https://www.ncbi.nlm.nih.gov/pubmed/26247049
http://dx.doi.org/10.1002/mgg3.145

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