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

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

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 1994

Zheng Y Z, Sakata T, Matsusue T, Umeyama H, Kato H, Miyata T

Abstract excerpt

The molecular basis of protein C deficiency was studied in three type I and three type II heterozygotes. Three probands showed thrombotic complications. All the exons and intron/exon junctions of the protein C gene were studied using a strategy combining by the polymerase chain reaction (PCR) amplification, single-strand conformational polymorphism (SSCP) analysis, and DNA sequencing of the PCR-amplified...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Amino Acid Sequence

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

Share to Base Sequence

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 7865674
DOI: 10.1097/00001721-199410000-00003

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

Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.PMID 7865674Read ↗

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 ↗

Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.Semantic proximity Read ↗

Analysis of four hereditary protein C deficiencies associated with vascular thromboembolism.Semantic proximity Read ↗

Three novel mutations in the protein C (PROC) gene causing venous thrombosis.Semantic proximity Read ↗

Analysis of Four Hereditary Protein C Deficiencies Associated with Vascular ThromboembolismSemantic proximity Read ↗

A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency.Semantic proximity Read ↗

Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.Semantic proximity Read ↗

In silico report on five high-risk protein C pathogenic variants: G403R, P405S, S421N, C238S, and I243T.Semantic proximity Read ↗

Protein C deficiency: from gene defects to disease.Semantic proximity Read ↗

Symptomatic hereditary type-II protein C deficiency caused by a missense mutation in exon IX of the protein C gene (Gly381 to Ser).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 ↗

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

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