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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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| 出版年: | Hum Genome Var |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group UK
2018
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| 主題: | |
| オンライン･アクセス: | 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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