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

Genetic characterization of Glanzmann thrombasthenia: insights from novel igta2b mutations in a Tunisian patient cohort.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2026

Elmahmoudi Hajer, Kerkeni Nesrine, Deli Temim, Zaier Amira, Zahra Kaouther, Elborgi Wejden, Gouider Emna

Abstract excerpt

Glanzmann thrombasthenia is an inherited platelet disorder resulting from defects in the integrin αIIbβ3 complex due to mutations in the ITGA2B or ITGB3 genes. This study aimed to elucidate the molecular and clinical characteristics of Glanzmann thrombasthenia in a Tunisian cohort. Twelve patients from 11 unrelated families were evaluated using clinical examination, platelet function assays, and comprehensive...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

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

Share to Cohort Studies

Share to Integrin alpha2

Share to Integrin beta3

Share to Mutation, Missense

Share to Thrombasthenia

Share to Tunisia

Source

Identifiers

PMID: 42261741
DOI: 10.1097/MBC.0000000000001437

Genes

ITGA2B
ITGB3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 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

Genetic characterization of Glanzmann thrombasthenia: insights from novel igta2b mutations in a Tunisian patient cohort.PMID 42261741Read ↗

Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.Semantic proximity Read ↗

Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations.Semantic proximity Read ↗

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.Semantic proximity Read ↗

Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.Semantic proximity Read ↗

Novel mutations in Thai patients with glanzmann thrombasthenia.Semantic proximity Read ↗

Clinical and molecular insights into Glanzmann's thrombasthenia in China.Semantic proximity Read ↗

Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.Semantic proximity Read ↗

Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.Semantic proximity Read ↗

Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations.Semantic proximity Read ↗

ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.Semantic proximity Read ↗

Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?Semantic proximity Read ↗

αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.Semantic proximity Read ↗

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