Article

Glanzmann Thrombasthenia due to ITGA2B mutation: report of a China family

2024-01-31

Abstract excerpt

<h4>Objective: </h4> We describe physical and histological features, and the molecular impact of mutation ITGA2B in a non-consanguineous China family. In addition, we explore the fertility feasibility, pre-pregnancy guidance of GT patients ,and how to avoid live births with GT. <h4>Methods:</h4> We report two female patients, daughters of non-consanguineous parents. The platelet aggregation rate showed a low patte...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e3b55d20-7460-5957-9161-983be7c1b1ab
DOI: 10.22541/au.170669956.68132995/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Glanzmann Thrombasthenia due to ITGA2B mutation: report of a China familyDOI 10.22541/au.170669956.68132995/v1Read

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

[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia].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

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

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

Genetic Confirmation and Identification of Novel Variants for Glanzmann Thrombasthenia and Other Inherited Platelet Function Disorders: A Study by the Korean Pediatric Hematology Oncology Group (KPHOG).Semantic proximity Read

SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia.Semantic proximity Read

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

[Pedigree Analysis and Molecular Mechanism Study of Hereditary Glanzmann Thrombasthenia Caused by Compound Heterozygous Mutation of the ITGA2B Gene].Semantic proximity Read

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

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

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