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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Bibliographische Detailangaben
Hauptverfasser: Romero, Atocha, Garre, Pilar, Valentin, Olivia, Sanz, Julian, Pérez-Segura, Pedro, Llovet, Patricia, Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2013
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3770653/
https://ncbi.nlm.nih.gov/pubmed/24039744
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0072195
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