3 Factor IX
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Mutations in the catalytic domain of human coagulation factor IX: rapid characterisation by direct genomic sequencing of DNA fragments displaying an altered melting behaviour
Genomics
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Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
Cell
(1984) - et al.
Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position −4
Cell
(1986) - et al.
Different base/base mispairs are corrected with different efficiencies and specificities in monkey kidney cells
Cell
(1988) - et al.
A conserved epitope on several human vitamin K-dependent proteins
Journal of Biological Chemistry
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Unusual case of haemophilia B
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Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B
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Haemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterised by polymerase chain reaction
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(1988) - et al.
A second BamHI DNA polymorphism and haplotype association in the factor IX gene
Blood
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β-hydroxyaspartic acid in vitamin K-dependent proteins
Journal of Biological Chemistry
(1983)
Computer generated models of blood coagulation factor Xa, factor IXa and thrombin based upon structural homology with other serine proteases
The Journal of Biological Chemistry
(1982)
A moderate form of haemophilia B is caused by a novel mutation in the protease domain of factor IX Vancouver
Journal of Biological Chemistry
(1989)
Circulating factor IX antigen-inhibitor complexes in haemophilia B—following infusion of a factor IX concentrate
Blood
(1979)
Measurement of human factor IXa activity in an isolated factor X activation system
Thrombosis Research
(1982)
Molecular defect in factor IX Hilo, a hemophilia Bm variant: Arg → Gln at the carboxy terminal cleavage site of the activation peptide
Blood
(1989)
The activation of factor IX by tissue factor-factor VII in a bovine plasma system lacking factor X
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Recognition site directing vitamin K-dependent γ-carboxylation resides on the propeptide of factor IX
Cell
(1987)
The structures of the carbohydrate moieties of bovine blood coagulation factor IX (Christmas factor). Occurrence of penta-and tetrasialyl triantennary sugar chains in the asparagine-linked sugar chains
Journal of Biology and Chemistry
(1983)
β-hydroxyaspartic acid in the first epidermal growth factor-like domain of protein C. Its role in Ca2+ binding and biological activity
Journal of Biological Chemistry
(1988)
Effect of propeptide mutations on post-translational processing of factor IX: evidence that β-hydroxylation and γ-carboxylation are independent events
Journal of Biological Chemistry
(1987)
Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype)
Blood
(1989)
Identification of a factor IX/IXa binding protein on the endothelial cell surface
Journal of Biological Chemistry
(1987)
Molecular defect in factor IXBM Lake Elsinore
Journal of Biological Chemistry
(1988)
Plasma thromboplastin component (PTC) deficiency: a new disease resembling hemophilia
The gene structure of human anti-haemophilic factor IX
EMBO Journal
(1984)
Nullisomic deletion of the mcf2 transforming gene in two haemophilia B patients
EMBO Journal
(1988)
Characterisation of two differently processed forms of human recombinant factor IX synthesised in CHO cells transformed with a polycistronic vector
European Journal of Biochemistry
(1988)
Christmas disease: a condition previously mistaken for haemophilia
British Medical Journal
(1952)
DNA methylation and the frequency of CpG in animal DNA
Nucleic Acids Research
(1980)
Partial factor IX protein in a pedigree with hemophilia B due to a partial gene deletion
Journal of Clinical Investigation
(1986)
The molecular pathology of haemophilia B
Biochemical Society Transactions
(1987)
Haemophilia B: a review of patient defects, diagnosis with gene probes and prospects for gene therapy
Carrier detection of haemophilia B with factor IX DNA specific probe. Preliminary report
Regional localization of the human factor IX gene by molecular hybridization
Human Genetics
(1983)
Factor IXPortland: a nonsense mutation (CGA→TGA) resulting in hemophilia B
American Journal of Human Genetics
(1989)
Molecular cloning of the gene for human anti-haemophilic factor IX
Nature
(1982)
Expression of active human blood clotting factor IX in transgenic mice: use of a cDNA with complete mRNA sequence
Nucleic Acids Research
(1987)
The solution structure of human epidermal growth factor
Nature
(1987)
Chemical reactivity of matched cytosine and thymine bases near mismatched and unmatched bases in an heteroduplex between DNA strands with multiple differences
Nucleic Acids Research
(1989)
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
Comparison of factor IX methylation on human active and inactive X chromosomes: implications for X inactivation and transcription of tissue-specific genes
EMBO Journal
(1986)
Activity of synthetic phospholipids in blood coagulation
Thrombosis et Diathesis Haemorrhagica
(1965)
Nucleotide sequence of the gene for human prothrombin
Biochemistry
(1987)
Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor
The relationship of N-linked glycosylation and heavy chain-binding protein association with the secretion of glycoproteins
Journal of Cell Biology
(1987)
A nonsense mutation in the factor IX gene identified in a hemophilic B patient by amplification of factor IX sequences
American Journal of Human Genetics
(1988)
Estimation of genetic risks of carriership for possible carriers of Christmas disease (haemophilia B)
Brazilian Journal of Genetics
(1986)
The nucleotide sequences of the gene for human protein C
Regulation of factor IXa in vitro in human and mouse plasma and in vivo in the mouse. Role of the endothelium and plasma proteinase inhibitors
Journal of Clinical Investigation
(1984)
Isolation and characterisation of bovine factor IX (Christmas factor)
Biochemistry
(1973)
Cited by (20)
5 Antenatal diagnosis
1991, Bailliere's Clinical Haematology12 Genetically engineered and affinity purified plasma proteins
1990, Bailliere's Clinical HaematologyHaemophilia A and haemophilia B: Molecular insights
2002, Journal of Clinical Pathology - Molecular PathologySingle nucleotide polymorphisms of the factor IX gene for linkage analysis in the southern Chinese population
2000, British Journal of Haematology
Copyright © 1989 Published by Elsevier Ltd.