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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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Autors principals: Romero, Atocha, Garre, Pilar, Valentin, Olivia, Sanz, Julian, Pérez-Segura, Pedro, Llovet, Patricia, Díaz-Rubio, Eduardo, de la Hoya, Miguel, Caldés, Trinidad
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Accés en línia: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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