Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).
作者信息
Simurda Tomas, Caccia Sonia, Asselta Rosanna, Zolkova Jana, Stasko Jan, Skornova Ingrid, Snahnicanova Zuzana, Loderer Dusan, Lasabova Zora, Kubisz Peter
机构信息
National Centre of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital Martin, Martin, Slovakia.
Department of Biomedical and Clinical Sciences "L. Sacco", Università degli Studi di Milano, Milan, Italy.
出版信息
J Thromb Thrombolysis. 2020 Jul;50(1):233-236. doi: 10.1007/s11239-019-01991-x.
PMID:31712947
Abstract
摘要
Zotero 插件