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October 1, 2000Blood

A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing

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Authors

MMMaurizio MargaglioneRSRosa SantacroceDCDonatella Colaizzo

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Margaglione et al. (2000) studied this question.

synapsesocial.com/papers/6a93b9c504d7c7946bb85fbfhttps://doi.org/10.1182/blood.v96.7.2501
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing1987 · 71 citations
  2. 2Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia1999 · 111 citations
  3. 3Partial mRNA sequences for human A alpha, B beta, and gamma fibrinogen chains: evolutionary and functional implications.1983 · 88 citations
  4. 4Intracellular assembly of human fibrinogen.1983 · 104 citations
  5. 5Missense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion2000 · 111 citations