Protein S deficiency type I: identification of point mutations in 9 of 10 families
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References (42)
Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction
1987 • 64,270 citations
Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia
1985 • 9,128 citations
Protein folding in the cell
1992 • 4,138 citations
Prediction of the Secondary Structure of Proteins from their Amino Acid Sequence
1979 • 2,930 citations
The coagulation cascade: initiation, maintenance, and regulation
1991 • 1,810 citations
The Roles of Protein C and Thrombomodulin in the Regulation of Blood Coagulation
1989 • 1,059 citations
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. 1985.
1992 • 740 citations
The Regulation of Natural Anticoagulant Pathways
1987 • 702 citations
Familial protein S deficiency is associated with recurrent thrombosis.
1984 • 614 citations
Determination of Nucleotide Sequences in DNA
1981 • 593 citations
Plasma protein S deficiency in familial thrombotic disease
1984 • 516 citations
High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein.
1981 • 373 citations
An abnormal plasma distribution of protein S occurs in functional protein S deficiency
1986 • 289 citations
Detection of chimeric BCR-ABL genes in acute lymphoblastic leukaemia by the polymerase chain reaction
1991 • 247 citations
Heavy-chain binding protein recognizes aberrant polypeptides translocated in vitro
1988 • 219 citations
Biosynthesis and secretion of factor VII, protein C, protein S, and the Protein C inhibitor from a human hepatoma cell line
1986 • 171 citations
Participation of endothelial cells in the protein C-protein S anticoagulant pathway: the synthesis and release of protein S.
1986 • 157 citations
Hereditary deficiency of antithrombin III, protein C and protein S: prevalence in patients with a history of venous thrombosis and criteria for rational patient screening.
1992 • 151 citations
Organization of the human protein S genes
1990 • 143 citations
Primary structure of bovine vitamin K-dependent protein S.
1986 • 126 citations
The Risk of Thromboembolism in Asymptomatic Patients with Protein C and Protein S Deficiency: A Prospective Cohort Study
1994 • 119 citations
Cloning and characterization of human liver cDNA encoding a protein S precursor.
1987 • 97 citations
Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene
1995 • 94 citations
Intron-exon organization of the active human protein S gene PS.alpha. and its pseudogene PS.beta.: Duplication and silencing during primate evolution
1990 • 85 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
DNA fragment purification: removal of agarose 10 minutes after electrophoresis.
1991 • 73 citations
Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.
1994 • 72 citations
Two Genes Homologous with Human Protein S cDNA Are Located on Chromosome 3
1987 • 65 citations
Protein C Deficiency: A Database of Mutations
1993 • 64 citations
Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization
1990 • 59 citations
Partial protein S gene deletion in a family with hereditary thrombophilia
1989 • 55 citations
Severe Protein S Deficiency in a Newborn
1992 • 50 citations
Familial Dysfunction of Protein S
1989 • 46 citations
Plasma protein S deficiency in familial thrombotic disease
1984 • 44 citations
A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PSα (PROS1)
1991 • 34 citations
Molecular cloning, expression and functional characterization of rabbit anticoagulant vitamin‐K‐dependent protein S
1993 • 30 citations
An abnormal plasma distribution of protein S occurs in functional protein S deficiency
1986 • 22 citations
Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency
1993 • 17 citations
The human protein S locus: Identification of the PSα gene as a site of liver protein S messenger RNA synthesis
1988 • 16 citations
First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.
1994 • 13 citations
The role of protein C and thrombomodulin in the regulation of blood coagulation.
1984 • 9 citations
Structure of mouse protein S as determined by PCR amplification and DNA sequencing of cDNA
1994 • 9 citations