(Q34124313)

31 July 2017

title

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

1 reference

31 July 2017

1 reference

Reitsma PH

1

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31 July 2017

Ploos van Amstel HK

series ordinal

2

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31 July 2017

Bertina RM

series ordinal

3

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31 July 2017

language of work or name

English

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publication date

1 February 1994

1 reference

Journal of Clinical Investigation

31 July 2017

published in

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31 July 2017

volume

93

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31 July 2017

issue

2

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31 July 2017

page(s)

486-492

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High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein

31 July 2017

cites work

1 reference

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5 July 2018

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Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

5 July 2018

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5 July 2018

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Heavy-chain binding protein recognizes aberrant polypeptides translocated in vitro

5 July 2018

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The regulation of natural anticoagulant pathways.

5 July 2018

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Biosynthesis and secretion of factor VII, protein C, protein S, and the Protein C inhibitor from a human hepatoma cell line

5 July 2018

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

5 July 2018

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The human protein S locus: identification of the PS alpha gene as a site of liver protein S messenger RNA synthesis.

5 July 2018

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Hereditary protein S deficiency: clinical manifestations

5 July 2018

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Primary structure of bovine vitamin K-dependent protein S

5 July 2018

1 reference

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Participation of endothelial cells in the protein C-protein S anticoagulant pathway: the synthesis and release of protein S.

5 July 2018

1 reference

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Identification and quantitation of protein S in human platelets.

5 July 2018

1 reference

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5 July 2018

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

5 July 2018

1 reference

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Diagnosis and treatment of homozygous protein C deficiency. Report of the Working Party on Homozygous Protein C Deficiency of the Subcommittee on Protein C and Protein S, International Committee on Thrombosis and Haemostasis

5 July 2018

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Polypeptide chain binding proteins: catalysts of protein folding and related processes in cells

5 July 2018

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Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization

5 July 2018

1 reference

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Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: duplication and silencing during primate evolution

5 July 2018

1 reference

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Organization of the human protein S genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293866

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293866

Laboratory evaluation of protein S status

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293866

A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PS alpha (PROS1).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293866

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293866

A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293866

Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992

5 July 2018

1 reference

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293866

Sex hormone-binding globulin, androgen-binding protein, and vitamin K-dependent protein S are homologous to laminin A, merosin, and Drosophila crumbs protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293866

Severe protein S deficiency in a newborn

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=293866

Two genes homologous with human protein S cDNA are located on chromosome 3

5 July 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Partial protein S gene deletion in a family with hereditary thrombophilia

1 reference

12 December 2020

Two ELISA's for measurement of protein S, and their use in the laboratory diagnosis of protein S deficiency

1 reference

12 December 2020

Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI116997

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31 July 2017

1 reference

31 July 2017

1 reference