Article
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
Human mutation - 1 May 2010
van der Klift Heleen M, Tops Carli M J, Bik Elsa C, Boogaard Merel W, Borgstein Anne-Marijke, Hansson Kerstin B M, Ausems Margreet G E M, Gomez Garcia Encarna, Green Andrew, Hes Frederik J, Izatt Louise, van Hest Liselotte P, Alonso Angel M, Vriends Annette H J T, Wagner Anja, van Zelst-Stams Wendy A G, Vasen Hans F A, Morreau Hans, Devilee Peter, Wijnen Juul T
Abstract excerpt
Heterozygous mutations in PMS2 are involved in Lynch syndrome, whereas biallelic mutations are found in Constitutional mismatch repair-deficiency syndrome patients. Mutation detection is complicated by the occurrence of sequence exchange events between the duplicated regions of PMS2 and PMS2CL. W...
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