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Germline deletion of chromosome 2p16-21 associated with Lynch syndrome
We identified a Japanese patient with Lynch syndrome with a novel large germline deletion of chromosome 2p16-21, including the EPCAM, MSH2, and KCNK12 genes. The proband was a 46-year-old man with ascending colon cancer. The clinical significance of germline KCNK12 gene deletion, which encodes one o...
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| 發表在: | Hum Genome Var |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group UK
2021
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8134480/ https://ncbi.nlm.nih.gov/pubmed/34012011 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00152-y |
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