Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses-Reference-Cited by-同舟云学术

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

Published:2015-04-23 Issue:4 Volume:3 Page:327-345
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

van der Klift Heleen M.¹²,Jansen Anne M. L.¹,van der Steenstraten Niki¹,Bik Elsa C.²,Tops Carli M. J.²,Devilee Peter¹³,Wijnen Juul T.¹²

Affiliation:

1. Department of Human Genetics; Leiden University Medical Center; Leiden The Netherlands

2. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

3. Department of Pathology; Leiden University Medical Center; Leiden The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.145/fullpdf

Reference37 articles.

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2. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing;Auclair;Hum. Mutat.,2006

3. NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region;Baralle;FEBS Lett.,2006

4. Missed threads. The impact of pre-mRNA splicing defects on clinical practice;Baralle;EMBO Rep.,2009

5. An intronic mutation in MLH1 associated with familial colon and breast cancer;Bianchi;Fam. Cancer,2011

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