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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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| Publicado en: | Mol Genet Genomic Med |
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| Autores principales: | , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | 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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