Congenital hypo- or afibrinogenemia is an autosomal recessive disorder characterizes by low levels of fibrinogen in plasma, and a bleeding disorder ensues. It is caused by mutations of the FGA or FGB gene.
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Neerman-Arbez M et al. (2001) Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. |
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Neerman-Arbez M et al. (1999) Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia. |
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Neerman-Arbez M et al. (2000) Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia. |
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OMIM.ORG article Omim 202400 |
18. |
Wikipedia article Wikipedia EN (Congenital_afibrinogenemia) |