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Insertion of an Alu‐like element in MLH1 intron 7 as a novel cause of Lynch syndrome
BACKGROUND: Lynch Syndrome (LS) is caused by germline mutations in the DNA mismatch repair (MMR) genes with mutations in MLH1 accounting for ~40% of LS‐related alterations. METHODS: MSK‐IMPACT analysis was performed on peripheral blood from a patient with early‐ onset colorectal cancer. Subsequently...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7767547/ https://ncbi.nlm.nih.gov/pubmed/33058565 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1523 |
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