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...

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Detalles Bibliográficos
Autores principales: Liccardo, Raffaella, De Rosa, Marina, Izzo, Paola, Duraturo, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
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

Internet

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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