Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1979 • 22,482 citations

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

1977 • 1,372 citations

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

1992 • 1,338 citations

The Roles of Protein C and Thrombomodulin in the Regulation of Blood Coagulation

1989 • 1,059 citations

Splicing of Messenger RNA Precursors

1984 • 874 citations

Biochemical Mechanisms of Constitutive and Regulated Pre-mRNA Splicing

1991 • 708 citations

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

1985 • 683 citations

Agarose Gel Electrophoresis

1972 • 670 citations

Protein degradation in the endoplasmic reticulum

1990 • 659 citations

Illegitimate transcription: transcription of any gene in any cell type.

1989 • 647 citations

Human Plasma Protein C

1979 • 511 citations

The nucleotide sequence of the gene for human protein C.

1985 • 360 citations

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

1993 • 354 citations

Transport of secretory and membrane glycoproteins from the rough endoplasmic reticulum to the Golgi. A rate-limiting step in protein maturation and secretion.

1988 • 327 citations

Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation.

1987 • 308 citations

Access to a Messenger RNA Sequence or Its Protein Product Is Not Limited by Tissue or Species Specificity

1989 • 306 citations

A novel procedure for quantitative polymerase chain reaction by coamplification of competitive templates

1992 • 272 citations

Changes in the plasma levels of vitamin K-dependent proteins C and S and of C4b-binding protein during pregnancy and oral contraception

1988 • 259 citations

Nucleotide sequence of the gene for human prothrombin

1987 • 258 citations

The human tissue plasminogen activator gene.

1986 • 230 citations

Characterization of the gene for human plasminogen, a key proenzyme in the fibrinolytic system.

1990 • 221 citations

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

1986 • 220 citations

Gene for human factor X: a blood coagulation factor whose gene organization is essentially identical with that of factor IX and protein C

1986 • 204 citations

Characterization of a cDNA coding for human protein C.

1984 • 183 citations

Evolution and organization of the human protein C gene.

1986 • 169 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

Organization of the gene for human factor XI

1987 • 147 citations

The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects

1991 • 126 citations

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII.

1989 • 117 citations

Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r

1986 • 100 citations

Cloning and sequencing of liver cDNA coding for bovine protein C.

1984 • 95 citations

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease.

1990 • 94 citations

Characterization of bovine prothrombin mRNA and its translation product

1984 • 94 citations

Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

1993 • 84 citations

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.

1989 • 82 citations

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

1984 • 72 citations

Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum

1992 • 67 citations

Illegitimate transcription. Application to the analysis of truncated transcripts of the dystrophin gene in nonmuscle cultured cells from Duchenne and Becker patients.

1991 • 54 citations

Molecular cloning and nucleotide sequence of human pancreatic prechymotrypsinogen cDNA

1989 • 49 citations

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

1991 • 45 citations

Sequence of formation of molecular forms of plasminogen and plasmin-inhibitor complexes in plasma activated by urokinase or tissue-type plasminogen activator

1984 • 42 citations

Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.

1992 • 40 citations

Visualization of von Willebrand Factor Multimers by Enzyme-Conjugated Secondary Antibodies

1986 • 38 citations

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

1992 • 29 citations

Identification of cDNA clones encoding secretory isoenzyme forms: sequence determination of canine pancreatic prechymotrypsinogen 2 mRNA.

1983 • 27 citations

Biological relevance of the protein C system and laboratory diagnosis of protein C and protein S deficiencies

1990 • 26 citations

A Specific Immunologic Assay for Functional Plasminogen Activator Inhibitor 1 in Plasma – Standardized Measurements of the Inhibitor and Related Parameters in Patients with Venous Thromboembolic Disease

1992 • 20 citations