Improved Multiplex Ligation-Dependent Probe Amplification Analysis Identifies a Deleterious PMS2 Allele Generated by Recombination with Crossover Between PMS2 and PMS2CL

Heterozygous PMS2 germline mutations are associated with Lynch syndrome. Up to one third of these mutations are genomic deletions. Their detection is complicated by a pseudogene (PMS2CL), which – owing to extensive interparalog sequence exchange – closely resembles PMS2 downstream of exon 12. A rece...

Descripción completa

Detalles Bibliográficos
Autores principales: Wernstedt, Annekatrin, Valtorta, Emanuele, Armelao, Franco, Togni, Roberto, Girlando, Salvatore, Baudis, Michael, Heinimann, Karl, Messiaen, Ludwine, Staehli, Noemie, Zschocke, Johannes, Marra, Giancarlo, Wimmer, Katharina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2012
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398144/
https://www.ncbi.nlm.nih.gov/pubmed/22585707
http://dx.doi.org/10.1002/gcc.21966

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398144/
https://www.ncbi.nlm.nih.gov/pubmed/22585707
http://dx.doi.org/10.1002/gcc.21966

Ejemplares similares