Mutations in the R2 FV Gene Affect the Ratio between the Two FV Isoforms in Plasma

Summary Molecular genetics and biochemical studies were performed in homozygotes for the R2 allele (4070G) in the factor V gene, most of them affected by coronary artery disease. Novel polymorphisms (G642T, 156Ser; T1328C, 385Met/Thr), among which a functional candidate (A6755G, 2194Asp/Gly) located...

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Veröffentlicht in:	Thrombosis and haemostasis 2000-03, Vol.83 (3), p.362-365
Hauptverfasser:	Castoldi, Elisabetta, Rosing, Jan, Girelli, Domenico, Hoekema, Lico, Lunghi, Barbara, Mingozzi, Federico, Ferraresi, Paolo, Friso, Simonetta, Corrocher, Roberto, Tans, Guido, Bernardi, Francesco
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Alleles Base Sequence Biological and medical sciences Blood coagulation. Blood cells Case-Control Studies Coagulation factors Coronary Disease - blood Coronary Disease - genetics DNA Primers - genetics Factor V - genetics Factor V - metabolism Female Fundamental and applied biological sciences. Psychology Genotype Homozygote Humans Male Middle Aged Molecular and cellular biology Mutation Phenotype Polymorphism, Genetic Protein Isoforms - blood Protein Isoforms - genetics Rapid Communications
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