What does this research mean for the field?

A heterozygous point mutation (G1456 to T) in the thrombomodulin gene is associated with thromboembolic disease and likely causes structural or functional impairment of the protein. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.ESTABLISHES_NEW_DIRECTION.

January 15, 1995BloodOpen Access

The first mutation identified in the thrombomodulin gene in a 45-year- old man presenting with thromboembolic disease

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Why the study?

Are mutations in the thrombomodulin gene present in patients with unexplained thromboembolic disease?

Population

Normal healthy volunteers and patients presenting with a thromboembolic disease, specifically highlighting a…

Comparison

Polymerase chain reaction-single-strand… vs Normal healthy volunteers

Design

Case_report

Authors

AOAK OhlinLund University RMRA MarlarLund University

Discussion

Member takes

Implication

Hypothesis-generating for thrombomodulin mutations in unexplained thromboembolism; leaves open extension of known protein C pathway defects.

Structured PICO

Are mutations in the thrombomodulin gene present in patients with unexplained thromboembolic disease?

Population

Normal healthy volunteers and patients presenting with a thromboembolic disease, specifically highlighting a 45-year-old Hispanic man with documented pulmonary embolism

Intervention

Polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and DNA sequence analysis of the entire thrombomodulin (TM) gene

Comparator

Normal healthy volunteers

Outcome

Identification of mutations in the thrombomodulin (TM) genesurrogate

This study provides the first evidence of a thrombomodulin gene mutation in a patient with thromboembolic disease, suggesting a novel genetic basis for unexplained prothrombotic states.

Cite This Study

Ohlin et al. (1995) studied this question.

synapsesocial.com/papers/6a1eb52e6b4935698da4396e https://doi.org/10.1182/blood.v85.2.330.330

Topics

Pulmonary embolism

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Implication

Hypothesis-generating for thrombomodulin mutations in unexplained thromboembolism; leaves open extension of known protein C pathway defects.

The first mutation identified in the thrombomodulin gene in a 45-year- old man presenting with thromboembolic disease

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

The first mutation identified in the thrombomodulin gene in a 45-year- old man presenting with thromboembolic disease

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider