Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population-Reference-Cited by-同舟云学术

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Molecular genetic diagnosis of Tunisian Glanzmann thrombasthenia patients reveals a common nonsense mutation in the ITGA2B gene that seems to be specific for the studied population

Published:2018-12 Issue:8 Volume:29 Page:689-696
ISSN:0957-5235
Container-title:Blood Coagulation & Fibrinolysis
language:en
Short-container-title:

Author:

Aloui Chaker,Chakroun Tahar,Granados Viviana,Jemni-Yacoub Saloua,Fagan Jocelyne,Khelif Abderrahim,Kahloul Najoua,Hammami Sabeur,Chkioua Latifa,Barlier Céline,Cognasse Fabrice,Laradi Sandrine,Garraud Olivier

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Hematology,General Medicine

Reference41 articles.

1. Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment;Nurden;Expert Rev Hematol,2012

2. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models;Nurden;Blood,2011

3. Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families;Fiore;Eur J Hum Genet,2011

4. Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran;Toogeh;Am J Hematol,2004

5. Genetic profile of Glanzmann's thrombasthenia in south Tunisia. Report of 17 cases (11 families);Ben Aribia;Tunis Med,2005

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1. Glanzmann Thrombasthenia: Diagnosis and Management;Congenital Bleeding Disorders;2023

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