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

Molecular characterization of novel splice site mutation causing protein C deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jul 2016

Al-Hamed Mohamed H, AlBatniji Fatma, AlDakheel Ghadah A, El-Faraidi Huda, Al-Zahrani Azzah, Al-Abbass Fahed, Imtiaz Faiqa

Abstract excerpt

Congenital protein C deficiency is an inherited coagulation disorder associated with an elevated risk of venous thromboembolism. A Saudi Arabian male from a consanguineous family was admitted to neonatal intensive care unit in his first days of life because of transient tachypnea and hematuria. Laboratory investigations determined low platelet and protein C deficiency. Direct sequencing of PROC gene and RNA...

Read the complete abstract on PubMed

Topics

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

Share to Blood Platelets
Share to Hematuria

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

Share to Platelet Count

Share to Protein C

Share to Protein C Deficiency

Share to Prothrombin

Share to RNA Splice Sites

Share to Saudi Arabia

Source

Identifiers

PMID: 26656900
DOI: 10.1097/MBC.0000000000000490

Genes

PROC

Variants

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

Molecular characterization of novel splice site mutation causing protein C deficiency.PMID 26656900Read ↗

A novel mutation in protein C gene (PROC) causing severe phenotype in neonatal period.Semantic proximity Read ↗

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.Semantic proximity Read ↗

A novel silent substitution (C8516T) in exon 9 of the human PROC gene.Semantic proximity Read ↗

Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency-first analysis of the International Society on Thrombosis and Haemostasis pediatric antithrombin deficiency database and biorepository.Semantic proximity Read ↗

SERPINC1 mutations and thrombotic events in inherited antithrombin deficiency: a study on the han population of East China.Semantic proximity Read ↗

[Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene].Semantic proximity Read ↗

New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling.Semantic proximity Read ↗

Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia.Semantic proximity Read ↗

Clinical and genetic features of protein C deficiency in 23 unrelated Chinese patients.Semantic proximity Read ↗

Molecular basis of antithrombin deficiency.Semantic proximity Read ↗

Molecular genetic analysis of severe protein C deficiency.Semantic proximity Read ↗

Novel protein C gene mutation in a compound heterozygote resulting in catastrophic thrombosis in early adulthood: diagnosis and long-term treatment with subcutaneous protein C concentrate.Semantic proximity Read ↗

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