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A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient who had multiple colorectal cancers. Accurate diagnosis wi...
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| Publicado no: | Hum Genome Var |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5938003/ https://ncbi.nlm.nih.gov/pubmed/29760937 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0002-1 |
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