title: A new variant of human prothrombin: prothrombin Metz, demonstration in a family showing double heterozygosity for congenital hypoprothrombinemia and dysprothrombinemia.
abstract: Investigation of a mild hemorrhagic tendency in a French family revealed the father to be heterozygous for hypoprothrombinemia while the mother was heterozygous for dysprothrombinemia. All possible genetic combinations could be demonstrated. Among the children the double heterozygosity encountered in 3 of them allowed us to discover an abnormal prothrombin, prothrombin Metz, which generates an abnormal thrombin less sensitive to inactivation by antithrombin III than normal thrombin.
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D005602:France; D014644:Genetic Variation; D006474:Hemorrhagic Disorders / Q000097:blood / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007020:Hypoprothrombinemias / Q000097:blood / Q000235:genetics*; D007700:Kinetics; D008297:Male; D010375:Pedigree; D011516:Prothrombin / Q000235:genetics* / Q000378:metabolism; D013917:Thrombin / Q000378:metabolism
chemical_list: D011516:Prothrombin; D013917:Thrombin