A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype
纤维蛋白原β链中FGB基因(c.1421G>A;p.Trp474Ter)的新型无义突变导致低纤维蛋白原血症伴出血表型
期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines8120605
Simurda, Tomas; Vilar, Rui; Zolkova, Jana; Ceznerova, Eliska; Kolkova, Zuzana; Loderer, Dusan; Neerman-Arbez, Marguerite; Casini, Alessandro; Brunclikova, Monika; Skornova, Ingrid; Dobrotova, Miroslava; Grendar, Marian; Stasko, Jan; Kubisz, Peter