Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21540/fullpdf
Reference20 articles.
1. Novel MLH1 duplication identified in Colombian families with Lynch syndrome;Alonso-Espinaco;Genet Med,2011
2. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation;Auclair;Hum Mutat,2007
3. Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer;Baert-Desurmont;Eur J Hum Genet,2007
4. Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods;Baudhuin;J Mol Diagn,2005
5. Evolution of the nomenclature for the hereditary colorectal cancer syndromes;Boland;Fam Cancer,2005
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