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Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays

With the discovery that the hereditary cancer susceptibility disease Lynch syndrome (LS) is caused by deleterious germline mutations in the DNA mismatch repair (MMR) genes nearly 20 years ago, genetic testing can now be used to diagnose this disorder in patients. A definitive diagnosis of LS can dir...

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Detalles Bibliográficos
Autores principales:	Heinen, Christopher D, Juel Rasmussen, Lene
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3434035/ https://www.ncbi.nlm.nih.gov/pubmed/22824075 http://dx.doi.org/10.1186/1897-4287-10-9

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