Condition: Antithrombin III Deficiency


rs1170430756 in SERPINC1 gene and Antithrombin III Deficiency PMID 7959685 1994 Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.

PMID 2365065 1990 Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

PMID 3080419 1986 Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.

PMID 11713457 2001 Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.

PMID 7989582 1994 Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

PMID 3162733 1988 Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow.

PMID 1547341 1992 Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

PMID 16908819 2006 Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

PMID 1555650 1992 Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

PMID 2781509 1989 Antithrombin Chicago, amino acid substitution of arginine 393 to histidine.

PMID 15164384 2004 Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.

PMID 2013320 1991 Site-directed mutagenesis of alanine-382 of human antithrombin III.

PMID 9759613 1998 The molecular basis of antithrombin deficiency in Belgian and Dutch families.

PMID 7994035 1994 Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.

PMID 3191114 1988 Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.

PMID 8274732 1994 Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

PMID 9157604 1997 Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.

PMID 8443391 1993 Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

PMID 9031473 1997 Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

PMID 23910795 2013 Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

PMID 20027064 2010 The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 24082793 2013 Use of recombinant human antithrombin concentrate in pregnancy.

PMID 23910795 2013 Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

PMID 2794060 1989 Molecular characterization of antithrombin III (ATIII) variants using polymerase chain reaction. Identification of the ATIII Charleville as an Ala 384 Pro mutation.

PMID 24956267 2014 Discordant diagnoses obtained by different approaches in antithrombin mutation analysis.

PMID 26748602 2016 Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.

PMID 27322195 2016 Heparanase Activates Antithrombin through the Binding to Its Heparin Binding Site.

PMID 28317092 2017 SERPINC1 gene mutations in antithrombin deficiency.

PMID 28300866 2017 Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency.

PMID 2615648 1989 "CpG dinucleotides are ""hotspots"" for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction."

PMID 24162787 2014 Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.

PMID 21325262 2011 A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.

PMID 6582486 1984 Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability.

PMID 1873224 1991 Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI.

rs121909546 in SERPINC1;ZBTB37 gene and Antithrombin III Deficiency PMID 16620552 2005 [A heterozygous point mutation G13328A in antithrombin gene causes thrombosis].

PMID 8274732 1994 Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

PMID 11713457 2001 Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.

PMID 9031473 1997 Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

PMID 9759613 1998 The molecular basis of antithrombin deficiency in Belgian and Dutch families.

PMID 7959685 1994 Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.

PMID 7994035 1994 Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.

PMID 9157604 1997 Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.

PMID 2781509 1989 Antithrombin Chicago, amino acid substitution of arginine 393 to histidine.

PMID 3080419 1986 Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.

PMID 3162733 1988 Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow.

PMID 23910795 2013 Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

PMID 2365065 1990 Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

PMID 2013320 1991 Site-directed mutagenesis of alanine-382 of human antithrombin III.

PMID 20027064 2010 The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

PMID 16908819 2006 Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

PMID 1547341 1992 Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

PMID 1555650 1992 Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

PMID 3191114 1988 Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.

PMID 7989582 1994 Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

PMID 15164384 2004 Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.

PMID 8443391 1993 Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

PMID 1469094 1992 Pleiotropic effects of antithrombin strand 1C substitution mutations.

rs121909549 in ZBTB37;SERPINC1 gene and Antithrombin III Deficiency PMID 9759613 1998 The molecular basis of antithrombin deficiency in Belgian and Dutch families.

PMID 1547341 1992 Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

PMID 8443391 1993 Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

PMID 16908819 2006 Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

PMID 15164384 2004 Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.

PMID 9157604 1997 Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.

PMID 7959685 1994 Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.

PMID 1555650 1992 Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

PMID 9031473 1997 Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

PMID 8274732 1994 Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

PMID 3080419 1986 Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.

PMID 7994035 1994 Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.

PMID 3162733 1988 Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow.

PMID 11713457 2001 Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.

PMID 20027064 2010 The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists.

PMID 2013320 1991 Site-directed mutagenesis of alanine-382 of human antithrombin III.

PMID 2365065 1990 Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

PMID 23910795 2013 Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

PMID 2781509 1989 Antithrombin Chicago, amino acid substitution of arginine 393 to histidine.

PMID 7989582 1994 Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

PMID 3191114 1988 Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.