Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families.

Large genomic rearrangements (LGRs) in DNA-mismatch-repair (MMR) genes, particularly among MSH2 gene, are frequently involved in the etiology of Lynch syndrome (LS). The Multiplex Ligation and Probe Amplification assay (MLPA) is commonly used to identify such alterations. However, in most cases, the...

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Bibliographic Details
Main Authors: Atocha Romero, Pilar Garre, Olivia Valentin, Julian Sanz, Pedro Pérez-Segura, Patricia Llovet, Eduardo Díaz-Rubio, Miguel de la Hoya, Trinidad Caldés
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24039744/pdf/?tool=EBI