Lynch syndrome is characterized by mutations in the mismatch repair genes MLH1, MSH2, MSH6, and PMS2. In PMS2, detection of mutations is confounded by numerous pseudogenes. Detection of 3 0 deletions is particularly complicated by the pseudogene PMS2CL, which has strong similarity to PMS2 exons 9 an
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes
β Scribed by Cecily P. Vaughn; Jorge Robles; Jeffrey J. Swensen; Christine E. Miller; Elaine Lyon; Rong Mao; Pinar Bayrak-Toydemir; Wade S. Samowitz
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 141 KB
- Volume
- 31
- Category
- Article
- ISSN
- 1059-7794
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