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

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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Bibliographic Details
Main Authors: 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
Format: Online
Language:English
Published: John Wiley & Sons, Ltd 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521968/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521968/

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