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

Protein S Erlangen: a novel PROS1 gene mutation associated with quantitative protein S deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jun 2022

Schneider Sabine, Reißig Julian, Weisbach Volker, Achenbach Susanne, Strobel Julian, Hackstein Holger

Abstract excerpt

The members of a Caucasian family were genetically analyzed on suspicion of hereditary protein S deficiency. A novel mutation, c.1904T>C, associated with severe quantitative protein S deficiency was found. The novel PROS1 mutation was identified by sequencing of the PROS1 gene coding sequence. The identified c.1904T>C point mutation results in p.Phe635Ser amino acid exchange, which is located in the Laminin...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acids
Share to Laminin

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

Share to Mutation

Share to Pedigree

Share to Protein S

Share to Protein S Deficiency

Source

Identifiers

PMID: 34939974
DOI: 10.1097/MBC.0000000000001120

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

Protein S Erlangen: a novel PROS1 gene mutation associated with quantitative protein S deficiency.PMID 34939974Read ↗

The Protein S Erlangen Mutation PROS1c.1904T>C (F635S) Suppresses Secretion.Semantic proximity Read ↗

Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary 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 ↗

Compound heterozygous mutations in the PROS1 gene responsible for quantitative and qualitative protein S deficiency.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 ↗

A rare splicing mutation in the PROS1 gene of a Korean patient with type I hereditary protein S deficiency.Semantic proximity Read ↗

PROS1 mutations associated with protein S deficiency in Polish patients with residual vein obstruction on rivaroxaban therapy.Semantic proximity Read ↗

Genotype and laboratory and clinical phenotypes of protein s deficiency.Semantic proximity Read ↗

Molecular basis of protein S deficiency in ChinaSemantic proximity Read ↗

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 ↗

Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.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 ↗

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