Dysfibrinogenemia is an autosomal dominant or recessive disorder caused by fibrinogen dysfunktion. It may present as hypercoagulability or bleeding disorder.
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Asselta R et al. (2001) Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. |
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Marino MW et al. (1986) Chromosomal localization of human and rat A alpha, B beta, and gamma fibrinogen genes by in situ hybridization. |
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86. |
Yoshida N et al. (1991) Fibrinogen Kyoto II, a new congenitally abnormal molecule, characterized by the replacement of A alpha proline-18 by leucine. |
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Lee MH et al. (1991) Fibrinogen Ledyard (A alpha Arg16----Cys): biochemical and physiologic characterization. |
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Mourad G et al. (2008) Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain. |
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Flood VH et al. (2006) The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance. |
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Maekawa H et al. (1991) An A alpha Ser-434 to N-glycosylated Asn substitution in a dysfibrinogen, fibrinogen Caracas II, characterized by impaired fibrin gel formation. |
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OMIM.ORG article Omim 134820 |
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Wikipedia article Wikipedia EN (Dysfibrinogenemia) |