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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Duraturo, Francesca, Cavallo, Angela, Liccardo, Raffaella, Cudia, Bianca, De Rosa, Marina, Diana, Giuseppe, Izzo, Paola
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Hindawi Publishing Corporation 2013
विषय:
Research Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591251/
https://ncbi.nlm.nih.gov/pubmed/23484096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/219897
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