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Novel MSH2 splice-site mutation in a young patient with Lynch syndrome
Lynch Syndrome (LS) is associated with germline mutations in one of the mismatch repair (MMR) genes, including MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MSH6, PMS1 homolog 2, mismatch repair system component (PMS2), MLH3 and MSH3. The mutations identified in MMR genes are point mutations or larg...
Autores principales: | Liccardo, Raffaella, De Rosa, Marina, Izzo, Paola, Duraturo, Francesca |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928652/ https://www.ncbi.nlm.nih.gov/pubmed/29568967 http://dx.doi.org/10.3892/mmr.2018.8752 |
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