Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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None (1963) [CONGENITAL AFIBRINOGENEMIA].
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BOMMER W et al. (1963) [Congenital afibrinogenaemia. I].
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LEMOINE P et al. (1963) [Congenital afibrinemia in 2 brothers with bone and hepatic lesions].
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None (1954) [Congenital afibrinogenemia; report of a case with multiple bone cysts and formation of a specific antibody (anti fibrinogen) following blood transfusion].
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None (1953) Congenital afibrinogenemia; report of a case.
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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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Haverkate F et al. (1995) Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen.
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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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| 16. |
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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| 17. |
OMIM.ORG article Omim 202400
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| 18. |
Wikipedia article Wikipedia EN (Congenital_afibrinogenemia)
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