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

Tomas SimurdaSonia CacciaRosanna AsseltaJana ZolkovaJan StaskoIngrid SkornovaZuzana SnahnicanovaDusan LodererZora LasabovaPeter Kubisz
Published in: Journal of thrombosis and thrombolysis (2021)
Keyphrases
  • early onset