Positive selection during the evolution of the blood coagulation factors in the context of their disease-causing mutations.
Rallapalli, Pavithra M; Orengo, Christine A; Studer, Romain A; Perkins, Stephen J.
Mol Biol Evol
; 31(11): 3040-56, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25158795
[Identification of compound heterozygous mutations of F11 gene in a pedigree affected with heriditary coagulation factor XI deficiency].
[Phenotype and Genotype Analysis in Two Pedigrees with Hereditary Coagulation Factor â ª Deficiency].
[Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency].
Exploring the global landscape of genetic variation in coagulation factor XI deficiency.
[Analysis on the novel compound heterozygous mutation Fâ ª of a patient with hereditary factor â ª deficiency].
[Novel mutations p.Lys327X and p.Leu424CysfsX8 underlying congenital factor â ª deficiency].
Archeogenetics of <i>F11</i> p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries.
Platelet factor XI: intracellular localization and mRNA splicing following platelet activation.
An update on factor XI structure and function.
Structure and function of factor XI.