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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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Ltd 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4682451/
https://ncbi.nlm.nih.gov/pubmed/25762362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22785
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