Evidence map›Paper›PMID 31743498›Full record

ArticleJournal of clinical laboratory analysis2020

A novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism.

Jingqing Xu, Gehong Peng, Yao Ouyang

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 35% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 2 citations in OpenAlex.

  1. Identification of novelResearch and practice in thrombosis and haemostasis · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

Jingqing XuTongji Medical College of Huangzhong University of Science and Technology, Hankou City, China.
Gehong PengDepartment of Ultrasound, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Yao OuyangDepartment of Respiratory, Affiliated Hospital of Zunyi Medical University, Zunyi, China.ORCID https://orcid.org/0000-0003-3181-1378
Zunyi Medical University · CNHuazhong University of Science and Technology · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThrombophilia is becoming a more frequently reported disorder these years. Hereditary protein S deficiency is one of the anticoagulant deficiencies that eventually results in thrombophilia. CASE PRESENTATION: A 24-year-old male patient was suffering from unexplained thrombosis for the second time with a family history of deep venous thrombosis. Screening tests for anticoagulant proteins found the activity of protein S markedly lowered (5.0%). The patient was discharged after anticoagulation treatment. Four years later, the review still showed the activity of protein S in his plasma decreased (16.0%). Molecular genetic analysis revealed him homozygous for a missense mutation, c.664G>A, in the exon7 of PROS1. The mutation discovered here is the first mutation affecting the codon 222 of PROS1. This mutation results in the replacement of the glycine at the codon 222 of protein S with arginine, leading to a reduction of protein S function.

conclusionsThe finding of this mutation may help with the understanding of the mechanism of protein S deficiency, especially in the Chinese population.

Indexed as

Mutation, MissenseAmino Acid SubstitutionFemaleHeterozygoteHumansMalePedigreeProtein SProtein S DeficiencyPulmonary EmbolismYoung AdultPROS1 protein, humanProtein SmutationPROS1protein S deficiencypulmonary embolismthrombophilia

Identifiers

PMID31743498
PMCPMC7171343
OpenAlexW2991185168

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.