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Article

Clinical analysis of<i>PMS2</i>: mutation detection and avoidance of pseudogenes

1 Jan 2010

Abstract excerpt

Germline mutation detection in PMS2, one of four mismatch repair genes associated with Lynch syndrome, is greatly complicated by the presence of numerous pseudogenes. We used a modification of a long-range PCR method to evaluate PMS2 in 145 clinical samples. This modification avoids potential interference from the pseudogene PMS2CL by utilizing a long-range product spanning exons 11-15, with the forward primer...

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Identifiers

PMID: 20205264
DOI: 10.1002/humu.21230

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Clinical analysis of<i>PMS2</i>: mutation detection and avoidance of pseudogenesPMID 20205264Read ↗

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