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Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees
BACKGROUND: Lynch syndrome (LS) is an autosomal‐dominant disorder that increases the risk of many cancers. The genetic basis of LS is germline mutations in DNA mismatch repair genes. METHODS: We performed next‐generation sequencing on blood cells obtained from the members of three unrelated LS pedig...
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| Pubblicato in: | Mol Genet Genomic Med |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7434735/ https://ncbi.nlm.nih.gov/pubmed/32490589 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1295 |
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