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Journal Abstract Search
223 related items for PubMed ID: 23560673
41. A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia. Marchi R, Brennan S, Meyer M, Rojas H, Kanzler D, De Agrela M, Ruiz-Saez A. Blood Cells Mol Dis; 2013 Mar; 50(3):177-81. PubMed ID: 23266225 [Abstract] [Full Text] [Related]
45. Mutational Epidemiology of Congenital Fibrinogen Disorders. Casini A, Blondon M, Tintillier V, Goodyer M, Sezgin ME, Gunes AM, Hanss M, de Moerloose P, Neerman-Arbez M. Thromb Haemost; 2018 Nov; 118(11):1867-1874. PubMed ID: 30332696 [Abstract] [Full Text] [Related]
46. Fibrinogen Aα gene genotyping in patients with inherited afibrinogenemia deficiency; a novel mutation in Iranian afibrinogenemia patients. Moazzeni A, Naderi M, Dorgalaleh A, Alizadeh S. Blood Coagul Fibrinolysis; 2023 Dec 01; 34(8):517-522. PubMed ID: 37823427 [Abstract] [Full Text] [Related]
49. A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. Levrat E, Aboukhamis I, de Moerloose P, Farho J, Chamaa S, Reber G, Fort A, Neerman-Arbez M. Blood Coagul Fibrinolysis; 2011 Mar 01; 22(2):148-50. PubMed ID: 21245743 [Abstract] [Full Text] [Related]
50. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. Vu D, de Moerloose P, Batorova A, Lazur J, Palumbo L, Neerman-Arbez M. J Med Genet; 2005 Sep 01; 42(9):e57. PubMed ID: 16141000 [Abstract] [Full Text] [Related]
56. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Duga S, Asselta R, Santagostino E, Zeinali S, Simonic T, Malcovati M, Mannucci PM, Tenchini ML. Blood; 2000 Feb 15; 95(4):1336-41. PubMed ID: 10666208 [Abstract] [Full Text] [Related]