Published in Biochemistry on July 02, 1985
An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide. Nucleic Acids Res (1989) 10.50
Low nucleotide diversity in man. Genetics (1991) 5.83
Molecular pathology of haemophilia B. EMBO J (1989) 2.74
Isolation and chromosomal localization of cDNAs encoding a novel human lymphocyte cell surface molecule, LAM-1. Homology with the mouse lymphocyte homing receptor and other human adhesion proteins. J Exp Med (1989) 2.67
Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucleic Acids Res (1989) 2.64
Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells. Nucleic Acids Res (1993) 2.45
Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. Am J Hum Genet (1989) 2.42
Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes. Proc Natl Acad Sci U S A (1991) 2.21
Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res (1992) 2.19
An enhancer element lies 3' to the human A gamma globin gene. EMBO J (1987) 2.11
Complete nucleotide sequence of the gene for human interleukin 1 alpha. Nucleic Acids Res (1986) 1.95
Characterization of a cDNA coding for human factor VII. Proc Natl Acad Sci U S A (1986) 1.89
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. Am J Hum Genet (1990) 1.78
Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci U S A (1987) 1.71
Canine hemophilia B resulting from a point mutation with unusual consequences. Proc Natl Acad Sci U S A (1989) 1.68
A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequences. Am J Hum Genet (1990) 1.67
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. Am J Hum Genet (1993) 1.66
The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots. Nucleic Acids Res (1990) 1.64
Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci U S A (1988) 1.64
Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. Am J Hum Genet (1999) 1.61
Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes. Genome Res (1997) 1.60
The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA. Nucleic Acids Res (1989) 1.60
X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B. Proc Natl Acad Sci U S A (1995) 1.58
Inactivation of the gene for anticoagulant protein C causes lethal perinatal consumptive coagulopathy in mice. J Clin Invest (1998) 1.55
Human mast cell tryptase: multiple cDNAs and genes reveal a multigene serine protease family. Proc Natl Acad Sci U S A (1990) 1.55
Haemophilia B: database of point mutations and short additions and deletions--eighth edition. Nucleic Acids Res (1998) 1.54
A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism. J Clin Invest (1996) 1.49
Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993. Nucleic Acids Res (1993) 1.49
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res (1996) 1.44
Recombinant factor IX-Fc fusion protein (rFIXFc) demonstrates safety and prolonged activity in a phase 1/2a study in hemophilia B patients. Blood (2011) 1.43
Molecular characterization of a gene of the 'EGF family' expressed in undifferentiated human NTERA2 teratocarcinoma cells. EMBO J (1989) 1.40
A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model. J Med Genet (1992) 1.38
Double-stranded DNA segments can efficiently prime the amplification of human genomic DNA. Nucleic Acids Res (1992) 1.37
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. Nucleic Acids Res (1992) 1.36
Molecular cloning of the large subunit of transforming growth factor type beta masking protein and expression of the mRNA in various rat tissues. Proc Natl Acad Sci U S A (1990) 1.32
An intragenic deletion of the factor IX gene in a family with hemophilia B. J Clin Invest (1985) 1.32
Haemophilia B: database of point mutations and short additions and deletions--second edition. Nucleic Acids Res (1991) 1.29
Nucleotide sequences of the genes for two distinct cephalosporin acylases from a Pseudomonas strain. J Bacteriol (1987) 1.23
Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin. Proc Natl Acad Sci U S A (1986) 1.22
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. Nucleic Acids Res (1994) 1.21
Haemophilia B: database of point mutations and short additions and deletions. Nucleic Acids Res (1990) 1.20
A streamlined mutation detection system: multicolor post-PCR fluorescence labeling and single-strand conformational polymorphism analysis by capillary electrophoresis. Genome Res (1997) 1.14
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). Proc Natl Acad Sci U S A (1991) 1.14
Comparison of factor IX methylation on human active and inactive X chromosomes: implications for X inactivation and transcription of tissue-specific genes. EMBO J (1986) 1.13
Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. J Clin Invest (1987) 1.12
Haemophilia A and haemophilia B: molecular insights. Mol Pathol (2002) 1.09
Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A (1991) 1.08
Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX. J Clin Invest (1987) 1.08
Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia. Proc Natl Acad Sci U S A (1988) 1.08
The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene. Am J Hum Genet (1994) 1.07
A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism. EMBO J (1988) 1.06
Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1. Am J Hum Genet (1990) 1.04
Novel families of interspersed repetitive elements from the human genome. Nucleic Acids Res (1990) 1.02
Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny. Nucleic Acids Res (1991) 1.02
Parental origin of factor IX gene mutations, and their distribution in the gene. Am J Hum Genet (1992) 1.01
The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis. Blood Transfus (2007) 1.01
The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians. Am J Hum Genet (1990) 1.00
A rapid test for V(D)J recombinase activity. Nucleic Acids Res (1990) 0.99
Comparative sequence analysis of mammalian factor IX promoters. Nucleic Acids Res (1990) 0.97
The rates and patterns of deletions in the human factor IX gene. Am J Hum Genet (1994) 0.96
Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements. Am J Hum Genet (1991) 0.96
Haemophilia A and haemophilia B: molecular insights. Mol Pathol (2002) 0.95
Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups. Am J Hum Genet (1987) 0.95
A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel). Nucleic Acids Res (1989) 0.95
Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B. Am J Hum Genet (1989) 0.95
Generation of a nested series of interstitial deletions in yeast artificial chromosomes carrying human DNA. Proc Natl Acad Sci U S A (1991) 0.94
Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B. Am J Hum Genet (1989) 0.94
A postulated mechanism for deletions with inversions. Am J Hum Genet (1993) 0.93
Hemophilia B in a male with a four-base insertion that arose in the germline of his mother. Nucleic Acids Res (1989) 0.92
Xrep, a plasmid-stimulating X chromosomal sequence bearing similarities to the BK virus replication origin and viral enhancers. Nucleic Acids Res (1986) 0.92
Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site. Am J Hum Genet (1992) 0.91
Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden. Proc Natl Acad Sci U S A (1990) 0.91
Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins. J Clin Invest (1989) 0.91
Hemophilia B: molecular pathogenesis and mutation analysis. J Thromb Haemost (2015) 0.90
Structural biology of factor VIIa/tissue factor initiated coagulation. Front Biosci (Landmark Ed) (2012) 0.89
Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes. J Clin Invest (1987) 0.89
Hepsin, a putative cell-surface serine protease, is required for mammalian cell growth. Proc Natl Acad Sci U S A (1993) 0.88
Characterization of the patterns of polymorphism in a "cryptic repeat" reveals a novel type of hypervariable sequence. Am J Hum Genet (1993) 0.88
Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B. Thromb Haemost (2012) 0.87
Haemophilia B: database of point mutations and short additions and deletions, 7th edition. Nucleic Acids Res (1997) 0.87
Two-step selective formation of three disulfide bridges in the synthesis of the C-terminal epidermal growth factor-like domain in human blood coagulation factor IX. Protein Sci (1994) 0.87
An integrated approach for identifying and mapping human genes. Proc Natl Acad Sci U S A (1993) 0.87
Novel short interspersed repeat in human DNA. Nucleic Acids Res (1990) 0.86
Characterization of recombinant human factor IX expressed in transgenic mice and in derived trans-immortalized hepatic cell lines. EMBO J (1990) 0.85
Antibody-probed conformational transitions in the protease domain of human factor IX upon calcium binding and zymogen activation: putative high-affinity Ca(2+)-binding site in the protease domain. Proc Natl Acad Sci U S A (1992) 0.85
Haemophilia: strategies for carrier detection and prenatal diagnosis. Bull World Health Organ (1993) 0.84
Intrinsic versus extrinsic coagulation. Kinetic considerations. Biochem J (1986) 0.84
The Malmö polymorphism of coagulation factor IX, an immunologic polymorphism due to dimorphism of residue 148 that is in linkage disequilibrium with two other F.IX polymorphisms. Am J Hum Genet (1988) 0.84
An insertion within the factor IX gene: hemophilia BEl Salvador. Am J Hum Genet (1988) 0.83
An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden. Proc Natl Acad Sci U S A (2009) 0.83
First epidermal growth factor-like domain of human blood coagulation factor IX is required for its activation by factor VIIa/tissue factor but not by factor XIa. Proc Natl Acad Sci U S A (1994) 0.83
Haemophilia B caused by mutation of a potential thrombin cleavage site in factor IX. Nucleic Acids Res (1990) 0.83
Identification of a factor IX point mutation using SSCP analysis and direct sequencing. Nucleic Acids Res (1990) 0.83
Variations among Japanese of the factor IX gene (F9) detected by PCR-denaturing gradient gel electrophoresis. Am J Hum Genet (1993) 0.83
Role of the residues of the 39-loop in determining the substrate and inhibitor specificity of factor IXa. J Biol Chem (2010) 0.81
Accurate and rapid detection of heterozygous carriers of a deletion by combined polymerase chain reaction and high-performance liquid chromatography. Proc Natl Acad Sci U S A (1992) 0.81
Splice junction mutations in factor IX gene resulting in severe hemophilia B. Nucleic Acids Res (1991) 0.81
The CDC Hemophilia B mutation project mutation list: a new online resource. Mol Genet Genomic Med (2013) 0.80
Partial factor IX protein in a pedigree with hemophilia B due to a partial gene deletion. J Clin Invest (1986) 0.80
Delineation of prognostic biomarkers in prostate cancer. Nature (2001) 12.25
Isolation and characterization of cDNAs encoding the heavy chain of human inter-alpha-trypsin inhibitor (I alpha TI): unambiguous evidence for multipolypeptide chain structure of I alpha TI. Proc Natl Acad Sci U S A (1987) 4.03
Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry (1984) 3.75
Cloning and characterization of human protease-activated receptor 4. Proc Natl Acad Sci U S A (1998) 3.50
Cloning and characterization of two cDNAs coding for human von Willebrand factor. Proc Natl Acad Sci U S A (1985) 3.41
Isolation and characterization of a cDNA coding for human factor IX. Proc Natl Acad Sci U S A (1982) 3.14
Anticoagulant properties of bovine plasma protein C following activation by thrombin. Biochemistry (1977) 2.96
Preparation and properties of bovine factor VIII (antihemophilic factor). Biochemistry (1980) 2.89
A comparison of human prothrombin, factor IX (Christmas factor), factor X (Stuart factor), and protein S. Biochemistry (1977) 2.77
Characterization of the complementary deoxyribonucleic acid and gene coding for human prothrombin. Biochemistry (1983) 2.49
Isolation and characterization of human Factor VIII (antihemophilic factor). J Biol Chem (1973) 2.46
Mephedrone, compared with MDMA (ecstasy) and amphetamine, rapidly increases both dopamine and 5-HT levels in nucleus accumbens of awake rats. Br J Pharmacol (2011) 2.40
Enzyme-labeling of antibodies and their fragments for enzyme immunoassay and immunohistochemical staining. J Immunoassay (1983) 2.26
The nucleotide sequence of the gene for human protein C. Proc Natl Acad Sci U S A (1985) 2.24
The role of serine proteases in the blood coagulation cascade. Adv Enzymol Relat Areas Mol Biol (1979) 2.21
Proteolytic activation of protein C from bovine plasma. Biochemistry (1976) 2.12
Isolation and characterization of bovine factor IX (Christmas factor). Biochemistry (1973) 2.04
Protein kinase C activators inhibit receptor-mediated potocytosis by preventing internalization of caveolae. J Cell Biol (1994) 2.04
Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders. Blood (1988) 2.01
Structure of the C2 domain of human factor VIII at 1.5 A resolution. Nature (1999) 1.97
Sequence of the cDNA and gene for angiogenin, a human angiogenesis factor. Biochemistry (1985) 1.94
Fatal embryonic bleeding events in mice lacking tissue factor, the cell-associated initiator of blood coagulation. Proc Natl Acad Sci U S A (1996) 1.93
Nucleotide sequence of the gene for human prothrombin. Biochemistry (1987) 1.92
Cloning and sequence of cDNA coding for alpha 1-antitrypsin. Proc Natl Acad Sci U S A (1981) 1.91
Characterization of a cDNA coding for human factor VII. Proc Natl Acad Sci U S A (1986) 1.89
A novel trypsin-like serine protease (hepsin) with a putative transmembrane domain expressed by human liver and hepatoma cells. Biochemistry (1988) 1.89
Nucleotide sequence of the gene for the gamma chain of human fibrinogen. Biochemistry (1985) 1.88
The mechanism of activation of bovine factor IX (Christmas factor) by bovine factor XIa (activated plasma thromboplastin antecedent). Biochemistry (1974) 1.86
Activation of human factor IX (Christmas factor). J Clin Invest (1978) 1.82
Role of fibrinogen alpha and gamma chain sites in platelet aggregation. Proc Natl Acad Sci U S A (1992) 1.81
Comparison of amino acid sequence of bovine coagulation Factor IX (Christmas Factor) with that of other vitamin K-dependent plasma proteins. Proc Natl Acad Sci U S A (1979) 1.77
A receptor guanylyl cyclase expressed specifically in olfactory sensory neurons. Proc Natl Acad Sci U S A (1995) 1.77
Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. Proc Natl Acad Sci U S A (1985) 1.75
Molecular cloning of a full-length cDNA for human alcohol dehydrogenase. Proc Natl Acad Sci U S A (1985) 1.74
Bovine factors X 1 and X 2 (Stuart factor). Isolation and characterization. Biochemistry (1972) 1.73
Characterization of protein S, a gamma-carboxyglutamic acid containing protein from bovine and human plasma. Biochemistry (1979) 1.73
Effects of cations on DNA-dependent RNA polymerase. Proc Natl Acad Sci U S A (1967) 1.73
Recombinant ob protein reduces feeding and body weight in the ob/ob mouse. J Clin Invest (1995) 1.71
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Sequence homology and structural comparison between the chromosomal human alpha 1-antitrypsin and chicken ovalbumin genes. Nature (1982) 1.70
Isolation, crystallization, and primary amino acid sequence of human platelet factor 4. J Biol Chem (1977) 1.68
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The isolation nd characterization of bovine factor VIII (antihemophilic factor). J Biol Chem (1972) 1.66
Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci U S A (1988) 1.64
Conjugation of glucose oxidase from Aspergillus niger and rabbit antibodies using N-hydroxysuccinimide ester of N-(4-carboxycyclohexylmethyl)-maleimide. Eur J Biochem (1979) 1.63
Organization of the gene for human factor XI. Biochemistry (1987) 1.62
Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C. Biochemistry (1986) 1.62
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Crystal structure of a 30 kDa C-terminal fragment from the gamma chain of human fibrinogen. Structure (1997) 1.60
Two membrane forms of guanylyl cyclase found in the eye. Proc Natl Acad Sci U S A (1995) 1.57
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Amino acid sequence of human histidine-rich glycoprotein derived from the nucleotide sequence of its cDNA. Biochemistry (1986) 1.52
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Bovine factor X 1 (Stuart factor). Mechanism of activation by protein from Russell's viper venom. Biochemistry (1972) 1.46
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Evidence that an Arg79-->Gln substitution in human factor VII is not associated with a reduction in coagulant activity. Blood Coagul Fibrinolysis (1992) 1.43
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Activation of human factor X (Stuart factor) by a protease from Russell's viper venom. Biochemistry (1977) 1.39
Molecular cloning, expression, and partial characterization of a second human tissue-factor-pathway inhibitor. Proc Natl Acad Sci U S A (1994) 1.38
Characterization of a cDNA coding for human factor X. Proc Natl Acad Sci U S A (1984) 1.36
Factor X activating enzyme from Russell's viper venom: isolation and characterization. Biochemistry (1976) 1.35
Amino acid sequence of the a subunit of human factor XIII. Biochemistry (1986) 1.32
An intragenic deletion of the factor IX gene in a family with hemophilia B. J Clin Invest (1985) 1.32
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Nucleotide sequence of the cDNA coding for human complement C1r. Biochemistry (1986) 1.29
Mild and efficient conjugation of rabbit Fab' and horseradish peroxidase using a maleimide compound and its use for enzyme immunoassay. J Biochem (1982) 1.29
Cloning and analysis of a cDNA coding for bovine prothrombin. Proc Natl Acad Sci U S A (1980) 1.28
Regional localization of the human factor IX gene by molecular hybridization. Hum Genet (1983) 1.28
Characterization of human, bovine, and horse antithrombin III. Biochemistry (1976) 1.28
The mechanism of activation of bovine factor X (Stuart factor) by intrinsic and extrinsic pathways. Biochemistry (1974) 1.28
The primary fibrin polymerization pocket: three-dimensional structure of a 30-kDa C-terminal gamma chain fragment complexed with the peptide Gly-Pro-Arg-Pro. Proc Natl Acad Sci U S A (1997) 1.26
Molecular cloning of human ABPL, an actin-binding protein homologue. Biochem Biophys Res Commun (1998) 1.26
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