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

Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S.

Thrombosis and haemostasis - 1 Jan 2000

Alhenc-Gelas M, Gandrille S, Aubry M L, Aiach M

Abstract excerpt

We analyzed the protein C gene (PROC) with the denaturing gradient gel electrophoresis (DGGE) scanning strategy in a series of 129 patients with suspected protein C (PC) deficiency (93 with low plasma PC levels and 36 with borderline level). At least one sequence variation was found in 104 of the 129 patients. Thirty-nine sequence variations (found in 72 patients) were already reported detrimental mutations....

Read the complete abstract on PubMed

Topics

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

Share to Gene Frequency
Share to PROC gene
Share to Mutation

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

Share to Protein C

Share to Protein C Deficiency

Source

Identifiers

PMID: 10669160

Genes

PROC

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

Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S.PMID 10669160Read ↗

Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French INSERM Network on Molecular Abnormalities Responsible for Protein C and Protein S deficiencies.Semantic proximity Read ↗

[Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency].Semantic proximity Read ↗

Whole PROC Gene Sequencing to Explain Genetically Unresolved Protein C Deficiencies.Semantic proximity Read ↗

[Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency due to heterozygous deletional mutation of PROC gene].Semantic proximity Read ↗

Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort.Semantic proximity Read ↗

Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies. The French Network on Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies.Semantic proximity Read ↗

[Analysis of phenotypes and genetic mutations in two pedigrees affected with hereditary protein C deficiency].Semantic proximity Read ↗

Molecular basis for protein C hereditary deficiency.Semantic proximity Read ↗

[Phenotype and genetic mutation analysis of an inherited protein C deficiency pedigree].Semantic proximity Read ↗

Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.Semantic proximity Read ↗

Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene.Semantic proximity Read ↗

[Analysis of an hereditary protein C deficiency pedigree with compound heterozygous gene mutations].Semantic proximity Read ↗

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