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Lynch Syndrome Associated with Two MLH1 Promoter Variants and Allelic Imbalance of MLH1 Expression

Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered by the frequent finding of sequence variants of uncertain significance in these genes. W...

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Detalles Bibliográficos
Autores principales: Hesson, Luke B, Packham, Deborah, Kwok, Chau-To, Nunez, Andrea C, Ng, Benedict, Schmidt, Christa, Fields, Michael, Wong, Jason WH, Sloane, Mathew A, Ward, Robyn L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682451/
https://www.ncbi.nlm.nih.gov/pubmed/25762362
http://dx.doi.org/10.1002/humu.22785