Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

Cell - Tập 75 Số 7 - Trang 1297-1303 - 1993
Martin R. Pollak1,2, Edward M. Brown3, Yah‐Huei Wu Chou3, Steven Hébert2, Stephen J. Marx4, Beat Stelnmann5, Tatjana Levi3, Christine E. Seidman6, Jonathan G. Seidman3
1Endocrine-Hypertension Division Department of Medicine Brigham and Women's Hospital Boston, Massachusetts 02115 USA
2Renal Division Department of Medicine Brigham and Women's Hospital Boston, Massachusetts 02115 USA
3Department of Genetics and, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA
4Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892 USA
5Department of Pedlatrics University of Zurich CH-8032 Zurich, Switzerland
6Cardiology Division Department of Medicine Brigham and Women's Hospital Boston, Massachusetts 02115 USA

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