Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Type II protein C deficiency: identification and molecular modelling of two natural mutants with low anticoagulant and normal amidolytic activity.

British journal of haematology - 1 Feb 2000

Faioni E M, Hermida J, Rovida E, Razzari C, Asti D, Zeinali S, Mannucci P M

Abstract excerpt

Two mutations in exons 3 and 9 of the protein C gene were identified by amplification and sequencing from symptomatic probands referred for venous thromboembolism and thrombophilia screening. The phenotype associated with the mutations is a type II protein C deficiency with normal amidolytic activity. In one family, the mutation in exon 3 (G3545-->A), which predicts an R9 to H substitution in the Gla domain, was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blotting, Western
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Factor VIIa

Share to Phenotype

Share to Point Mutation

Share to Protein C

Share to Protein C Deficiency

Share to Sequence Analysis, Protein

Source

Identifiers

PMID: 10691853
DOI: 10.1046/j.1365-2141.2000.01848.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Type II protein C deficiency: identification and molecular modelling of two natural mutants with low anticoagulant and normal amidolytic activity.PMID 10691853Read ↗

Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: patterns revealed by three-dimensional molecular modelling of mutations of the protease domain.Semantic proximity Read ↗

Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity.Semantic proximity Read ↗

Protein C deficiency caused by homozygosity for a novel PROC D180G mutation--in vitro expression and structural analysis of the mutation.Semantic proximity Read ↗

Gly197Arg mutation in protein C causes recurrent thrombosis in a heterozygous carrier.Semantic proximity Read ↗

Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.Semantic proximity Read ↗

In vitro characterisation of two naturally occurring mutations in the thrombin-sensitive region of anticoagulant protein S.Semantic proximity Read ↗

Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation.Semantic proximity Read ↗

Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.Semantic proximity Read ↗

Factor IX Bm Kiryu: a Val-313-to-Asp substitution in the catalytic domain results in loss of function due to a conformational change of the surface loop: evidence obtained by chimaeric modelling.Semantic proximity Read ↗

Six different point mutations in seven Danish families with symptomatic protein C deficiency.Semantic proximity Read ↗

Antithrombin III-Amiens: a new family with an Arg47----Cys inherited variant of antithrombin III with impaired heparin cofactor activity.Semantic proximity Read ↗

Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.