(Q30419026)

21 June 2017

1 reference

title

The molecular genetics of familial venous thrombosis (English)

1 reference

21 June 2017

1 reference

Cooper DN

1

1 reference

21 June 2017

1 September 1994

1 reference

Best Practice and Research: Clinical Haematology

21 June 2017

1 reference

21 June 2017

7

1 reference

21 June 2017

637-674

1 reference

21 June 2017

3

1 reference

Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect

21 June 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Low heparin cofactor II associated with abnormal crossed immunoelectrophoresis pattern in two Norwegian families

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Abnormal plasminogen. A hereditary molecular abnormality found in a patient with recurrent thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Differences of frequency distributions of plasminogen phenotypes between Japanese and American populations: new methods for the detection of plasminogen variants

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Mutation in blood coagulation factor V associated with resistance to activated protein C.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Heparin cofactor II: cDNA sequence, chromosome localization, restriction fragment length polymorphism, and expression in Escherichia coli

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Characterization of an unusual DNA length polymorphism 5' to the human antithrombin III gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A NheI RFLP in the human antithrombin III gene (1q23-q25) (AT3)

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Cloning and expression of the cDNA for human antithrom, bin III

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Assignment of the human antithrombin III structural gene to chromosome 1q23-25

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Antithrombin III alger: A new case of Arg 47 ← cys mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A TaqI RFLP of the human plasminogen gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Fibrinogen Chapel Hill II: Defective in reactions with thrombin, factor XIIIa and plasmin

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Mobile reactive centre of serpins and the control of thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Biological implications of a 3 A structure of dimeric antithrombin

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Sequence homology between human alpha 1-antichymotrypsin, alpha 1-antitrypsin, and antithrombin III.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Heparin cofactor II in adults and infants with thrombosis and DIC.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Characterization of complementary deoxyribonucleic acid and genomic deoxyribonucleic acid for the beta chain of human fibrinogen

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Characterization of a complementary deoxyribonucleic acid coding for the gamma chain of human fibrinogen.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

DdeI polymorphism in intron 5 of the ATIII gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PS alpha (PROS1).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Molecular characterization of the antithrombin III tours deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Genetic studies of antithrombin III with IEF and ASO hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Hereditary protein S deficiency: clinical manifestations

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Familial elevation of plasma histidine-rich glycoprotein in a family with thrombophilia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Heparin binding site, conformational change, and activation of antithrombin

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Molecular cloning and characterization of a full-length cDNA clone for human plasminogen

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

The apolipoprotein(a) gene resides on human chromosome 6q26?27, in close proximity to the homologous gene for plasminogen

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A gene homologous to plasminogen located on human chromosome 2q11-p11.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Carboxy-terminal-extended variant of the human fibrinogen alpha subunit: a novel exon conferring marked homology to beta and gamma subunits

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

The clinical expression of hereditary protein C and protein S deficiency: a relation to clinical thrombotic risk factors and to levels of protein C and protein S?

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Implications of the three-dimensional structure of alpha 1-antitrypsin for structure and function of serpins

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Multiple members of the plasminogen-apolipoprotein(a) gene family associated with thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Antithrombin Glasgow II: alanine 382 to threonine mutation in the serpin P12 position, resulting in a substrate reaction with thrombin

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Increased concentration of the fast-acting plasminogen activator inhibitor in plasma associated with familial venous thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

MspI RFLP in intron 8 of the human protein C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Antithrombin and its deficiency states

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Pleiotropic effects of antithrombin strand 1C substitution mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Pst I polymorphism of the antithrombin III gene in a French population

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Two RFLPS approximately 7 kb 5' of the human protein C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Genes for human vitamin K-dependent plasma proteins C and S are located on chromosomes 2 and 3, respectively

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Definition of the transcription initiation site of human plasminogen gene in liver and non hepatic cell lines

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Characterization of a complementary deoxyribonucleic acid coding for human and bovine plasminogen

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Factor XII activity and antigen concentrations in patients suffering from recurrent thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A thrombotic state due to an abnormal protein C

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

cDNA sequence of human apolipoprotein(a) is homologous to plasminogen

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

The complete amino acid sequence of bovine antithrombin (ATIII).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Congenital thrombophilia among patients with venous thromboembolism

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A potential basis for the thrombotic risks associated with lipoprotein(a).

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Absence of thrombosis in subjects with heterozygous protein C deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A novel nonsense mutation in the protein C (PROC) gene (Trp-29?Term) causing recurrent venous thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Plasminogens Tochigi II and Nagoya: Two Additional Molecular Defects with Ala-600 → Thr Replacement Found in Plasmin Light Chain Variants123

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A comparative study of partial primary structures of the catalytic region of mammalian protein C.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Sequence characterization of a sheep cDNA for antithrombin III

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Two different mechanisms in patients with venous thrombosis and defective fibrinolysis: low concentration of plasminogen activator or increased concentration of plasminogen activator inhibitor

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Different liver nuclear proteins binds to similar DNA sequences in the 5' flanking regions of three hepatic genes

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

The cDNA cloning and mRNA expression of rat protein C

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Sublocalization of the human protein C gene on chromosome 2q13-q14.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Human protein S cDNA encodes Phe-16 and Tyr 222 in consensus sequences for the post-translational processing

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

The human protein S locus: identification of the PS alpha gene as a site of liver protein S messenger RNA synthesis.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: duplication and silencing during primate evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Relationship between an enhancer element in the human antithrombin III gene and an immunoglobulin light-chain gene enhancer

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Molecular Heterogeneity of Inherited Antithrombin III Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A new member of the plasma protease inhibitor gene family

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Synthesis of human plasminogen by the liver

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Characterization of a complementary deoxyribonucleic acid coding for the alpha chain of human fibrinogen.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Nucleotide sequence of the gene for the gamma chain of human fibrinogen

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Structural gene encoding human factor XII is located at 5q33-qter.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Organization of the human protein S genes

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Constitutional heparin co-factor II deficiency associated with recurrent thrombosis

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Protein C deficiency: Identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Crystal structure of ovalbumin as a model for the reactive centre of serpins

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A player of many parts: the spotlight falls on thrombin's structure.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Resistance to activated protein C as a basis for venous thrombosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Synthesis of Protein C in Human Umbilical Vein Endothelial Cells1

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Asymptomatic homozygous protein C deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Homozygous protein C deficiency with delayed onset of symptoms at 7 to 10 months

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

MspI RFLP in the human heparin cofactor II (HCF2) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

The plasminogen activator/plasmin system

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Regulation of blood coagulation by the protein C system

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Recurrent venous thrombosis associated with inherited deficiency of heparin cofactor II

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Confirmation of linkage between antithrombin III and Duffy blood group and assignment of AT3 to 1q22 lead to q25

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Distribution of factor VIII mRNA and antigen in human liver and other tissues

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Human antithrombin II (AT3) gene length polymorphism revealed by the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and cellular basis for hereditary protein C deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

A phenotypically neutral dimorphism of protein S: the substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene

1 reference

https://api.crossref.org/works/10.1016%2FS0950-3536%2805%2980102-7

7 January 2021

10.1016/S0950-3536(05)80102-7

Identifiers

DOI

1 reference

release_kuer5pdqrvhonn6d7cuomgoppi

21 June 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kuer5pdqrvhonn6d7cuomgoppi

24 November 2022

mapped directly with Wikidata item

PubMed ID

7841604

1 reference

PubMed ID

7841604