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Protein S deficiency type I: identification of point mutations in 9 of 10 families

Data up to Jan 2025

Published1995
Citations44
References42

Total Citations Per Year

Abstract

References (42)

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

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1989 • 1,059 citations

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1992 • 740 citations

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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

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Protein S deficiency type I: identification of point mutations in 9 of 10 families (1995) – Blood | Metascience Observatory Explorer