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A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer

The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A→T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this e...

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Auteurs principaux: Froggatt, N., Green, J., Brassett, C., Evans, D, Bishop, D, Kolodner, R., Maher, E.
Format: Artigo
Langue:Inglês
Publié: BMJ Group 1999
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734294/
https://ncbi.nlm.nih.gov/pubmed/10051005
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