Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).

J Thromb Thrombolysis

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.

Published: July 2020

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http://dx.doi.org/10.1007/s11239-019-01991-x	DOI Listing

Publication Analysis

congenital hypofibrinogenemia

hypofibrinogenemia associated

associated novel

novel heterozygous

heterozygous nonsense

nonsense mutation

mutation globular

globular c-terminal

c-terminal domain

domain γ-chain

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