A frameshift mutation in Exon V of the A alpha-chain gene leading to truncated A alpha-chains in the homozygous dysfibrinogen Milano III

An inherited dysfunctional fibrinogen variant, denoted as fibrinogen Milano III, was found in a 13-year-old girl suffering from recurrent venous thrombosis. Plasma of the patient exhibited prolonged thrombin time and Reptilase time. Polymerization of fibrin monomers in the presence and absence of ca...

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Veröffentlicht in:	The Journal of biological chemistry 1994-12, Vol.269 (52), p.33129-33134
Hauptverfasser:	Furlan, M, Steinmann, C, Jungo, M, Bögli, C, Baudo, F, Redaelli, R, Fedeli, F, Lämmle, B
Format:	Artikel
Sprache:	eng
Schlagworte:	albumin Base Sequence Blotting, Western calcium Child DNA Electrophoresis, Polyacrylamide Gel Exons Female Fibrin - chemistry fibrinogen Fibrinogens, Abnormal - chemistry Fibrinogens, Abnormal - genetics Frameshift Mutation Homozygote Humans man Milano III Molecular Sequence Data Oxidation-Reduction Peptides - chemistry Polymers thrombin thrombosis
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