A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism.

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

Molecular Cloning. A Laboratory Manual

1983 • 27,328 citations

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I

1977 • 12,015 citations

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

Efficientin vitrosynthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

1984 • 6,459 citations

Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ

1977 • 4,696 citations

Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies

1966 • 4,504 citations

Prediction of protein antigenic determinants from amino acid sequences.

1981 • 3,715 citations

A new pair of M13 vectors for selecting either DNA strand of double-digest restriction fragments

1982 • 3,041 citations

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination.

1983 • 2,456 citations

DNA sequence analysis with a modified bacteriophage T7 DNA polymerase.

1987 • 2,266 citations

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1986 • 1,863 citations

Lambda replacement vectors carrying polylinker sequences

1983 • 1,809 citations

Molecular basis of base substitution hotspots in Escherichia coli

1978 • 1,185 citations

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

1987 • 811 citations

Direct Cloning and Sequence Analysis of Enzymatically Amplified Genomic Sequences

1986 • 766 citations

Complete nucleotide sequences of the gene for human factor IX (antihemophilic factor B)

1985 • 683 citations

Structure of crystalline α-chymotrypsin

1972 • 675 citations

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1984 • 586 citations

Blood Coagulation

1980 • 562 citations

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1987 • 514 citations

Location of disulphide bridges by diagonal paper electrophoresis. The disulphide bridges of bovine chymotrypsinogen A.

1966 • 450 citations

Characterization of a cDNA coding for human factor VII.

1986 • 450 citations

Novel bacteriophage lambda cloning vector.

1980 • 404 citations

Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA

1987 • 381 citations

The gene structure of human anti-haemophilic factor IX.

1984 • 361 citations

The nucleotide sequence of the gene for human protein C.

1985 • 360 citations

Packaging recombinant DNA molecules into bacteriophage particles in vitro.

1977 • 343 citations

Genomic Amplification with Transcript Sequencing

1988 • 324 citations

Characterization of the complementary deoxyribonucleic acid and gene coding for human prothrombin

1983 • 299 citations

The structure of bovine trypsin : Electron density maps of the inhibited enzyme at 5 Å and at 2·7 Å resolution

1974 • 279 citations

Amino acid sequence of human factor XI, a blood coagulation factor with four tandem repeats that are highly homologous with plasma prekallikrein

1986 • 258 citations

Human plasma prekallikrein, a zymogen to a serine protease that contains four tandem repeats

1986 • 220 citations

Characterization of human blood coagulation factor XII cDNA. Prediction of the primary structure of factor XII and the tertiary structure of beta-factor XIIa.

1985 • 194 citations

A New Method for Purifying Lambda DNA From Phage Lysates

1985 • 178 citations

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position −4

1986 • 176 citations

Primary structure of human complement component C2 Homology to two unrelated protein families

1986 • 148 citations

Comparison of amino acid sequence of bovine coagulation Factor IX (Christmas Factor) with that of other vitamin K-dependent plasma proteins.

1979 • 147 citations

Rapid Prenatal Diagnosis of Sickle Cell Anemia by a New Method of DNA Analysis

1987 • 132 citations

Structure, function, and molecular defects of factor IX

1986 • 131 citations

Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor.

1986 • 129 citations

Characterization of an almost full-length cDNA coding for human blood coagulation factor X.

1985 • 126 citations

Structure of Chymotrypsinogen B compared with Chymotrypsinogen A and Trypsinogen

1968 • 105 citations

Characterization of bovine prothrombin mRNA and its translation product

1984 • 94 citations

Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

1983 • 93 citations

Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.

1985 • 85 citations

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene

1985 • 84 citations

Amino acid sequence of dogfish trypsin

1975 • 77 citations

Blood coagulation factor X mRNA encodes a single polypeptide chain containing a prepro leader sequence

1984 • 72 citations

Factor IXAlabama: a point mutation in a clotting protein results in hemophilia B

1987 • 60 citations

Complete amino acid sequence of the catalytic chain of human complement subcomponent C.hivin.1r

1983 • 50 citations

A Practical Guide to Blood Coagulation and Haemostasis

1971 • 36 citations

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences

1987 • 32 citations

Amino acid sequence of the Bb fragment from complement Factor B. Sequence of the major cyanogen bromide-cleavage peptide (CB-II) and completion of the sequence of the Bb fragment

1983 • 29 citations

A de novo intragenic deletion of the potential EGF domain of the factor IX gene in a family with severe hemophilia B

1986 • 27 citations

The serine proteinase chain of human complement component C̅1s. Cyanogen bromide cleavage and N-terminal sequences of the fragments

1983 • 26 citations

Partial deletion by illegitimate recombination of the factor IX gene in a haemophilia B family with two inhibitor patients.

1988 • 20 citations

An improved sequencing method using SequenaseTM that is independant of template concentration

1988 • 16 citations

Recent advances in haematology

1999 • 13 citations