Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency

Recommendations for a nomenclature system for human gene mutations

1998 • 936 citations

[16] Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project

1990 • 689 citations

Inherited thrombophilia: pathogenesis, clinical syndromes, and management [see comments]

1996 • 438 citations

Protein S and C4b-Binding Protein: Components Involved in the Regulation of the Protein C Anticoagulant System

1991 • 357 citations

Laboratory Evaluation and Clinical Characteristics of 2,132 Consecutive Unselected Patients with Venous Thromboembolism – Results of the Spanish Multicentric Study on Thrombophilia (EMET*-Study)

1997 • 288 citations

Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease

1995 • 168 citations

Organization of the human protein S genes

1990 • 143 citations

Reevaluation of total, free, and bound protein S and C4b-binding protein levels in plasma anticoagulated with citrate or hirudin

1992 • 126 citations

Genetic and Phenotypic Analysis of a Large (122-Member) Protein S–Deficient Kindred Provides an Explanation for the Familial Coexistence of Type I and Type III Plasma Phenotypes

1997 • 103 citations

Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460

1990 • 101 citations

Hereditary Protein S Deficiency in Young Adults with Arterial Occlusive Disease

1990 • 90 citations

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

1997 • 78 citations

Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.

1994 • 72 citations

The gene for protein S maps near the centromere of human chromosome 3

1988 • 68 citations

Protein S Deficiency: A Database of Mutations

1997 • 67 citations

Two Genes Homologous with Human Protein S cDNA Are Located on Chromosome 3

1987 • 65 citations

Molecular basis for protein S hereditary deficiency: Genetic defects observed in 118 patients with type I and type IIa deficiencies1

1996 • 62 citations

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

1995 • 44 citations

Human protein S cDNA encodes Phe‐16 and Tyr 222 in consensus sequences for the post‐translational processing

1987 • 39 citations

The influence of low protein s plasma levels in young women, on the definition of normal range

1994 • 38 citations

SHBG region of the anticoagulant cofactor protein S: Secondary structure prediction, circular dichroism spectroscopy, and analysis of naturally occurring mutations

1997 • 35 citations

Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden

1996 • 32 citations

Familial protein S deficiency with a variant protein S molecule in plasma and platelets

1989 • 32 citations

Absence of Linkage Between Type III Protein S Deficiency and the PROS1 and C4BP Genes in Families Carrying the Protein S Heerlen Allele

1997 • 27 citations

Two Distinct Novel Splice Site Mutations in a Compound Heterozygous Patient with Protein S Deficiency

1997 • 26 citations

Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden

1996 • 24 citations

Identification of Three Novel Mutations in Hereditary Protein S Deficiency

1997 • 15 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

Identification of Two Novel Point Mutations in the Human Protein S Gene Associated With Familial Protein S Deficiency and Thrombosis

1996 • 9 citations

A frequent mutation in the protein S gene results in cryptic splicing

1997 • 9 citations

A hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency

1997 • 8 citations