Biophysical characterization of fibrinogen Caracas I with an Aα-chain truncation at Aα-466 Ser: identification of the mutation and biophysical characterization of properties of clots from plasma and purified fibrinogen

Fibrinogen Caracas I is a dysfibrinogenemia with a mild bleeding tendency; a novel nonsense mutation, in the gene coding the Aα-chain, identified in this study as G4731T, giving rise to a new stop codon at Aα-Glu 467. Fibrinogen from two family members, the mother and sister of the propositus, both...

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Veröffentlicht in:	Blood coagulation & fibrinolysis 2004-06, Vol.15 (4), p.285-293
Hauptverfasser:	Marchi, Rita, Meyer, Michael, de Bosch, Norma, Soria, Jeannette, Arocha-Piñango, Carmen Luisa, Weisel, John W
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Blood coagulation. Blood cells Fundamental and applied biological sciences. Psychology Hematologic and hematopoietic diseases Medical sciences Molecular and cellular biology Platelet diseases and coagulopathies
Online-Zugang:	Volltext
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