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Article

The frequency of previously undetectable deletions involving 3′ Exons of the <i>PMS2</i> gene

25 Sept 2012

Abstract excerpt

Lynch syndrome is characterized by mutations in one of four mismatch repair genes, MLH1, MSH2, MSH6, or PMS2. Clinical mutation analysis of these genes includes sequencing of exonic regions and deletion/duplication analysis. However, detection of deletions and duplications in PMS2 has previously been confined to Exons 1-11 due to gene conversion between PMS2 and the pseudogene PMS2CL in the remaining 3' exons...

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PMID: 23012243
DOI: 10.1002/gcc.22011

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