Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.

@article{V2003CongenitalAI,
  title={Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.},
  author={Dũng Gs. Ts Vũ and P H B Bolton-Maggs and Jeremy R Parr and Michael Aug. Morris and Philippe de Moerloose and M Neerman-Arbez},
  journal={Blood},
  year={2003},
  volume={102 13},
  pages={
          4413-5
        }
}
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease: a homozygous deletion of approximately 11 kb of the fibrinogen alpha-chain gene (FGA). Subsequent studies revealed that the great majority of afibrinogenemia mutations are localized in FGA, but mutations were also found in FGG and FGB. Apart from 3 missense mutations identified in the C-terminal… CONTINUE READING
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Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.

  • Human molecular genetics
  • 2005
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