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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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| Hauptverfasser: | , , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMJ Group
2000
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| Schlagworte: | |
| Online Zugang: | 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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