Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations

Leenen, C.H.M.; Geurts-Giele, W.R.R.; Dubbink, H.J.; Reddingius, R.; Ouweland, A.M. van den; Tops, C.M.J.; ... ; Wagner, A. (2011)

Article / Letter to editor

• compound heterozygosity
• constitutional mismatch repair deficiency
• immunohistochemistry
• Lynch syndrome
• microsatellite instability
• PMS2

• All authors: Leenen, C.H.M.; Geurts-Giele, W.R.R.; Dubbink, H.J.; Reddingius, R.; Ouweland, A.M. van den; Tops, C.M.J.; Klift, H.M. van de; Kuipers, E.J.; Leerdam, M.E. van; Dinjens, W.N.M.; Wagner, A.
• Date: 2011-12-31
• Journal: Clinical Genetics
• Volume: 80
• Issue: 6
• Pages: 558 - 565
• DOI: doi:10.1111/j.1399-0004.2010.01608.x