Article
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs.
Blood - 15 Dec 2001
Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci P M, Tenchini M L
Abstract excerpt
Congenital afibrinogenemia is a rare coagulation disorder with autosomal recessive inheritance, characterized by the complete absence or extremely reduced levels of fibrinogen in patients' plasma and platelets. Eight afibrinogenemic probands, with very low plasma levels of immunoreactive fibrinogen were studied. Sequencing of the fibrinogen gene cluster of each proband disclosed 4 novel point mutations (1914C>G,...
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