Contribution of Large Genomic Rearrangements in Italian Lynch Syndrome Patients: Characterization of a Novel Alu-Mediated Deletion

Lynch syndrome is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainly MLH1 and MSH2. Most of the mutations reported in these genes to date are point mutations, small deletions, and insertions. Large genomic rearrangements in the MMR genes predisposing to Lynch syndrome...

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Detalles Bibliográficos
Autores principales: Duraturo, Francesca, Cavallo, Angela, Liccardo, Raffaella, Cudia, Bianca, De Rosa, Marina, Diana, Giuseppe, Izzo, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591251/
https://www.ncbi.nlm.nih.gov/pubmed/23484096
http://dx.doi.org/10.1155/2013/219897

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3591251/
https://www.ncbi.nlm.nih.gov/pubmed/23484096
http://dx.doi.org/10.1155/2013/219897

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