1987
DOI: 10.1021/bi00394a033
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Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats

Abstract: Human factor V is a high molecular weight plasma glycoprotein that participates as a cofactor in the conversion of prothrombin to thrombin by factor Xa. Prior to its participation in the coagulation cascade, factor V is converted to factor Va by thrombin generating a heavy chain and a light chain, and these two chains are held together by calcium ions. A connecting region originally located between the heavy and light chains is liberated during the activation reaction. In a previous study, a cDNA of 2970 nucle… Show more

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Cited by 96 publications
(82 citation statements)
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“…Because the patient had undetectable levels of FV activity and antigen (Table 1), we postulated her to be a probable compound heterozygote. Further DNA sequence analysis revealed, apart from 6 previously published polymorphisms (G1628A, 37,38 (A2663G, A2684G, A2863G), 14,15,39,40 C4279T 41 and A5380G, [42][43][44] ) one other base change in the heterozygous state: exon 15: A5279G, Y1702C. Because she was an orphan without any known relatives, it was not possible to determine which changes occurred in trans of the 8-bp deletion by linkage analysis.…”
Section: Patientmentioning
confidence: 88%
“…Because the patient had undetectable levels of FV activity and antigen (Table 1), we postulated her to be a probable compound heterozygote. Further DNA sequence analysis revealed, apart from 6 previously published polymorphisms (G1628A, 37,38 (A2663G, A2684G, A2863G), 14,15,39,40 C4279T 41 and A5380G, [42][43][44] ) one other base change in the heterozygous state: exon 15: A5279G, Y1702C. Because she was an orphan without any known relatives, it was not possible to determine which changes occurred in trans of the 8-bp deletion by linkage analysis.…”
Section: Patientmentioning
confidence: 88%
“…Exon 13 is a highly polymorphic region of the gene; the finding of 6 sequence variations among this region in the proband illustrates the loose sequence constraints of this exon. 17,18,34,35 The lack of sequence constraint in this region of the molecule is also reflected by the fact that there is only a 59% sequence homology between the human and bovine exon 13, whereas other exons are 85% identical. 34,35 The FV clotting activity was tested and was within normal limits in 2 of the affected family members.…”
Section: Discussionmentioning
confidence: 99%
“…9 relating sequence-derived domain structure to morphologic features. Individual domains are drawn to scale in terms of the length of polypeptide making up each domain (2)(3)(4)(5) and are separated by bars. Domains are designated as follows: -, Al, A2, and A3; -, B; and -, Cl and C2.…”
Section: Figmentioning
confidence: 99%