BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports

Journal of Medical Genetics - Tập 45 Số 6 - Trang 321-331
Jorge R. Toro1, Ming-Hui Wei2,3, G.M. Glenn3, Michael Weinreich3, Ousmane Touré3, Cathy D. Vocke4, Maria L. Turner5, Peter L. Choyke6, Maria J. Merino7, P A Pinto4, Shannon M. Steinberg8, Laura S. Schmidt2,4, W. Marston Linehan4
1Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Boulevard, Executive Plaza South, Room 7012, Rockville, MD 20892-7231, USA
2Basic Research Program, SAIC–Frederick Inc, Frederick, Maryland, USA
3Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA
4Urologic Oncology Branch, Center for Cancer Research, NCI, NIH, Bethesda, Maryland, USA
5Dermatology Branch, Center for Cancer Research, NCI, NIH, Bethesda, Maryland, USA
6Molecular Imaging Program, Center for Cancer Research, NCI, NIH, Bethesda, Maryland, USA
7Laboratory of Pathology, Center for Cancer Research, NCI, NIH, Bethesda, Maryland, USA
8Biostatistics and Data Management Section, Center for Cancer Research, NCI, NIH, Bethesda, Maryland, USA

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