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Authors :
Punwani D; From the Department of Pediatrics, University of California, San Francisco (UCSF), School of Medicine and UCSF Benioff Children's Hospital (D.P., J.Y., M.J.C., A.K., B.A.M., J.M.P.), and the Cardiovascular Research Institute, UCSF (C.O.L.), San Francisco, and the Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley (A.N.A., S.E.B.) - all in California; the Blood Cell Development and Function Program, Fox Chase Cancer Center, Philadelphia (Y.Z., S.P.F., D.L.W.)
Subjects: Mutation, Missense*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Hematopoietic Stem Cells/Hematopoietic Stem Cells/Hematopoietic Stem Cells/*physiology
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Source:
The New England journal of medicine [N Engl J Med] 2016 Dec 01; Vol. 375 (22), pp. 2165-2176.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN:
Record details
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Authors :
Lenardo MJ; From the Molecular Development of the Immune System Section, Laboratory of Immunology and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, MD.
Subjects: Disease Models, Animal* ; Mutation, Missense*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics
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Source:
The New England journal of medicine [N Engl J Med] 2016 Dec 01; Vol. 375 (22), pp. 2117-2119.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN:
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Authors :
Assié G; From INSERM Unité 1016, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut Cochin (G.A., R.L., S.E., M.R.-R., A.G., W.L., O.B., L.L., S.R., K.P., F.R.-C., F.L., L. Groussin, X.B., B.R., J.B.), Faculté de Médecine Paris Descartes, Université Paris Descartes, Sorbonne Paris Cité (G.A., S.E., A.G., O.B., L.L., M.S., K.P., F.R.-C., L. Groussin, X.B., J.B.), Department of Endocrinology, Referral Center for Rare Adrenal Diseases (G.A., R.L., O.B., L. Guignat, L. Groussin, X.B., J.B.), and Department of Pathology (M.S.), Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, and Unit of Endocrinology, Department of Obstetrics and Gynecology, Hôpital Tenon (N.C.-B.) - all in Paris; Unit of Endocrinology, Centre Hospitalier du Centre Bretagne, Site de Kério, Noyal-Pontivy (B.T.), Unit of Endocrinology, Hôtel Dieu du Creusot, Le Creusot (A.P.), and Department of Endocrinology Lyon-Est, Groupement Hospitalier Est, Bron (F.B.-C.) - all in France
Subjects: Genes, Tumor Suppressor* ; Tumor Suppressor Proteins*; Cushing Syndrome/Cushing Syndrome/Cushing Syndrome/*geneticsActh-Independent Macronodular Adrenal Hyperplasia
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Source:
The New England journal of medicine [N Engl J Med] 2013 Nov 28; Vol. 369 (22), pp. 2105-14.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN:
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Authors :
Wolfraim LA; Laboratory of Cell Regulation and Carcinogenesis, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Md, USA.; Fernandez TM
Subjects: Cell Cycle Proteins/Cell Cycle Proteins/Cell Cycle Proteins/*genetics ; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*metabolism ; Leukemia, T-Cell/Leukemia, T-Cell/Leukemia, T-Cell/*metabolism
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Source:
The New England journal of medicine [N Engl J Med] 2004 Aug 05; Vol. 351 (6), pp. 552-9.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN:
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