Absence of Linkage Between Type III Protein S Deficiency and the PROS1 and C4BP Genes in Families Carrying the Protein S Heerlen Allele
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Abstract
References (54)
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Familial protein S deficiency is associated with recurrent thrombosis.
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1988 • 151 citations
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Inactivation of factor VIII by activated protein C and protein S
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Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460
1990 • 101 citations
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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
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1995 • 85 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
Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.
1994 • 72 citations
The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency
1995 • 69 citations
High affinity interaction between C4b-binding protein and vitamin K-dependent protein S in the presence of calcium. Suggestion of a third component in blood regulating the interaction.
1990 • 69 citations
The gene for protein S maps near the centromere of human chromosome 3
1988 • 68 citations
Two Genes Homologous with Human Protein S cDNA Are Located on Chromosome 3
1987 • 65 citations
Reevaluation of total, free, and bound protein S and C4b-binding protein levels in plasma anticoagulated with citrate or hirudin
1992 • 63 citations
Laboratory Evaluation of Protein S Status
1990 • 59 citations
Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization
1990 • 59 citations
Isoforms of human C4b-binding protein. II. Differential modulation of the C4BPA and C4BPB genes by acute phase cytokines.
1995 • 58 citations
Different Incidence of Venous Thrombosis in Patients with Inherited Deficiencies of Antithrombin III, Protein C and Protein S
1994 • 58 citations
Isoforms of human C4b-binding protein. I. Molecular basis for the C4BP isoform pattern and its variations in human plasma.
1995 • 55 citations
Partial protein S gene deletion in a family with hereditary thrombophilia
1989 • 55 citations
Congenital thrombophilia among patients with venous thromboembolism
1992 • 53 citations
Homzygous Protein S Deficiency due to a One Base Pair Deletion that Leads to a Stop Codon in Exon III of the Protein S Gene
1994 • 53 citations
A PCR-Based Linkage Map of Human Chromosome 1
1993 • 45 citations
Protein S deficiency type I: identification of point mutations in 9 of 10 families
1995 • 44 citations
Plasma protein S deficiency in familial thrombotic disease
1984 • 44 citations
The influence of low protein s plasma levels in young women, on the definition of normal range
1994 • 38 citations
Identification of Eight Point Mutations in Protein S Deficiency Type I – Analysis of 15 Pedigrees
1995 • 35 citations
A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families [see comments]
1991 • 35 citations
A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PSα (PROS1)
1991 • 34 citations
A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families [see comments]
1991 • 33 citations
Familial protein S deficiency with a variant protein S molecule in plasma and platelets
1989 • 32 citations
Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy
1995 • 32 citations
Inherited protein S deficiency: Clinical manifestations and laboratory findings in 63 patients
1994 • 27 citations
A Novel Nonsense Mutation Associated with an Exon Skipping in a Patient with Hereditary Protein S Deficiency Type I
1996 • 21 citations
Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency
1993 • 17 citations
Two Mutations in Exon XII of the Protein Sα Gene in Four Thrombophilic Families Resulting in Premature Stop Codons and Depressed Levels of Mutated mRNA
1996 • 15 citations
Five Novel Mutations of the Protein S Active Gene (PROS 1) in 8 Norman Families
1996 • 15 citations
First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.
1994 • 13 citations
First Case of Sporadic Protein S Deficiency due to a Novel Candidate Mutation, Ala 484 → Pro, in the Protein S Active Gene (PROSl)
1996 • 8 citations
Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32)
1992 • 4 citations
The gene for protein S maps near the centromere of human chromosome 3
1988 • 4 citations