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Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome
BACKGROUND: Lynch syndrome (LS) is caused by germline mismatch repair (MMR) gene mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought to be infrequent. We describe the first case of somatic mosaicism by a de novo MLH1 mutation for a patient diagnosed with a rectosig...
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| Gepubliceerd in: | Mol Genet Genomic Med |
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| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
John Wiley and Sons Inc.
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6625132/ https://ncbi.nlm.nih.gov/pubmed/31104363 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.699 |
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