Recurrent germline mutation in MSH2 arises frequently de novo

INTRODUCTION—An intronic germline mutation in the MSH2 gene, A→T at nt942+3, interferes with the exon 5 donor splicing mechanism leading to a mRNA lacking exon 5. This mutation causes typical hereditary non-polyposis colorectal cancer (HNPCC) and has been observed in numerous probands and families w...

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Main Authors: Desai, D., Lockman, J., Chadwick, R., Gao, X., Percesepe, A., Evans, D, Miyaki, M., Yuen, S. T., Radice, P., Maher, E., Wright, F., de la Chapelle, A.
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2000
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Original Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734701/
https://ncbi.nlm.nih.gov/pubmed/10978353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.9.646
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