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CDC73 germline mutation in a family with mixed epithelial and stromal tumors

OBJECTIVE: To describe a family in which three members presented with mixed epithelial tumor of the kidney (MEST) and were found to possess a germline mutation in CDC73, a gene which is associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT). MATERIALS AND METHODS: Blood and tumor DNA from t...

詳細記述

保存先:
書誌詳細
出版年:Urology
主要な著者: Vocke, Cathy D., Ricketts, Christopher J., Ball, Mark W., Schmidt, Laura S., Metwalli, Adam R., Middelton, Lindsay A., Killian, J. Keith, Khan, Javed, Meltzer, Paul S., Simonds, William F., Merino, Maria J., Linehan, W. Marston
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6382532/
https://ncbi.nlm.nih.gov/pubmed/30452964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.urology.2018.11.013
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