A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects-Reference-Cited by-同舟云学术

A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects

Published:2008-12 Issue:12 Volume:29 Page:1412-1424
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Tournier Isabelle,Vezain Myriam,Martins Alexandra,Charbonnier Françoise,Baert-Desurmont Stéphanie,Olschwang Sylviane,Wang Qing,Buisine Marie Pierre,Soret Johann,Tazi Jamal,Frébourg Thierry,Tosi Mario

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference46 articles.

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

2. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer;Barnetson;Hum Mutat,2008

3. Endometrial cancer risk is associated with variants of the mismatch repair genes MLH1 and MSH2;Beiner;Cancer Epidemiol Biomarkers Prev,2006

4. A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene;Blasi;Cancer Res,2006

5. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1;Cartegni;Nat Genet,2002

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