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

Genotype and laboratory and clinical phenotypes of protein s deficiency.

American journal of clinical pathology - 1 Feb 2012

Duebgen Sebastian, Kauke Teresa, Marschall Christoph, Giebl Andreas, Lison Susanne, Hart Christina, Dick Andrea, Spannagl Michael

Abstract excerpt

The diagnosis of thrombophilia caused by protein S deficiency remains difficult. From 2005 to 2010, we documented 135 patients with suspected hereditary protein S deficiency for whom mutational analysis of the PROS1 gene had been performed by direct double-stranded sequencing of the amplified 15 exons including splice sites. Multiplex ligation-dependent probe amplification was performed on 12 of 15 exons in cases...

Read the complete abstract on PubMed

Topics

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

Share to Blood Proteins
Share to DNA Mutational Analysis

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

Share to Family Health

Share to PROS1 gene

Share to Mutation

Share to Protein S

Share to Protein S Deficiency

Share to Thrombophilia

Source

Identifiers

PMID: 22261441
DOI: 10.1309/AJCP40UXNBTXGKUX

Genes

PROS1

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

Genotype and laboratory and clinical phenotypes of protein s deficiency.PMID 22261441Read ↗

Five new mutations in the PROS1 gene associated with protein S deficiency in Polish patients screened for thrombophilia: efficacy of direct oral anticoagulant treatment.Semantic proximity Read ↗

Molecular basis of protein S deficiency.Semantic proximity Read ↗

Identification of novel PROS1 variants through systematic analysis of patients with suspected hereditary protein S deficiency.Semantic proximity Read ↗

Two Novel Variants in the Protein S Gene PROS1 Are Associated with Protein S Deficiency and Thrombophilia.Semantic proximity Read ↗

Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification.Semantic proximity Read ↗

Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA).Semantic proximity Read ↗

Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S.Semantic proximity Read ↗

Protein S levels and the risk of venous thrombosis: results from the MEGA case-control study.Semantic proximity Read ↗

Molecular basis of protein S deficiency in ChinaSemantic proximity Read ↗

[Clinical manifestations and gene analysis of 18 cases of hereditary protein S deficiency].Semantic proximity Read ↗

A Thrombophilia Family With Protein S Deficiency Due to Protein Translation Disorders Caused By a Leu607Ser Heterozygous Mutation in PROS1Semantic proximity Read ↗

PROS1 Cys475Tyr mutation associated with a type III protein S deficiency pattern.Semantic proximity Read ↗

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