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Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Crooks, Daniel R; Cawthon, Geetha Mariah; Fitzsimmons, Christina M; Perez, Minervo; Ricketts, Christopher J; Vocke, Cathy D; Yang, Ye; Middelton, Lindsay; Nielsen, Debbie; Schmidt, Laura S; Tandon, Mayank; Merino, Maria J; Ball, Mark W; Meier, Jordan L; Batista, Pedro J; Linehan, William Marston.
Affiliation
  • Crooks DR; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Bethesda, MD 20892, United States.
  • Cawthon GM; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Bethesda, MD 20892, United States.
  • Fitzsimmons CM; RNA Metabolism and Epitranscriptomics Unit, Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, 9000 Rockville Pike, Bethesda, MD 20892, United States.
  • Perez M; Chemical Biology Laboratory, National Cancer Institute, 1050 Boyles St., Frederick, MD 21072, United States.
  • Ricketts CJ; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Bethesda, MD 20892, United States.
  • Vocke CD; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Bethesda, MD 20892, United States.
  • Yang Y; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Bethesda, MD 20892, United States.
  • Middelton L; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Bethesda, MD 20892, United States.
  • Nielsen D; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Bethesda, MD 20892, United States.
  • Schmidt LS; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Bethesda, MD 20892, United States.
  • Tandon M; Basic Science Program, Frederick National Laboratory for Cancer Research, 1050 Boyles St. Frederick, MD 21701, United States.
  • Merino MJ; CCR Collaborative Bioinformatics Resource (CCBR), Frederick National Laboratory for Cancer Research, Leidos Biomedical Research, Inc., 1050 Boyles St., Frederick, MD 21072, United States.
  • Ball MW; Translational Surgical Pathology, Laboratory of Pathology Center for Cancer Research, National Cancer Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, United States.
  • Meier JL; Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, 10 Center Drive, Bethesda, MD 20892, United States.
  • Batista PJ; Chemical Biology Laboratory, National Cancer Institute, 1050 Boyles St., Frederick, MD 21072, United States.
  • Linehan WM; RNA Metabolism and Epitranscriptomics Unit, Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, 9000 Rockville Pike, Bethesda, MD 20892, United States.
Hum Mol Genet ; 32(22): 3135-3145, 2023 11 03.
Article in En | MEDLINE | ID: mdl-37561409
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Neoplasms / Uterine Neoplasms / Carcinoma, Renal Cell / Leiomyomatosis / Kidney Neoplasms Limits: Female / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Neoplasms / Uterine Neoplasms / Carcinoma, Renal Cell / Leiomyomatosis / Kidney Neoplasms Limits: Female / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United States