Novel mutations in Thai patients with glanzmann thrombasthenia-Reference-Cited by-同舟云学术

Novel mutations in Thai patients with glanzmann thrombasthenia

Published:2017-10-05 Issue:6 Volume:99 Page:520-524
ISSN:0902-4441
Container-title:European Journal of Haematology
language:en
Short-container-title:Eur J Haematol

Author:

Ittiwut Rungnapa¹²,Suchartlikitwong Pintip³,Kittikalayawong Yaowaree⁴,Ittiwut Chupong¹²,Prasopsanti Karan²,Sosothikul Darintr⁴^ORCID,Shotelersuk Vorasuk¹²,Suphapeetiporn Kanya¹²

Affiliation:

1. Center of Excellence for Medical Genetics; Department of Pediatrics; Faculty of Medicine; Chulalongkorn University; Bangkok Thailand

2. Excellence Center for Medical Genetics; King Chulalongkorn Memorial Hospital; The Thai Red Cross Society; Bangkok Thailand

3. Department of Pediatrics; Faculty of Medicine; Chulalongkorn University; Bangkok Thailand

4. Division of Pediatric Hematology/Oncology; Department of Pediatrics; Faculty of Medicine; Chulalongkorn University; Bangkok Thailand

Funder

Chulalongkorn University

Chulalongkorn Academic Advancement into Its 2nd Century Project

Thailand Research Fund

Publisher

Wiley

Subject

Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ejh.12965/fullpdf

Reference21 articles.

1. Glanzmann's thrombasthenia: the spectrum of clinical disease;George;Blood,1990

2. Organization of the gene for platelet glycoprotein IIb;Heidenreich;Biochemistry,1990

3. The human integrin beta3 gene is 63 kb and contains a 5'-UTR sequence regulating expression;Wilhide;Blood,1997

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

5. Expanding the mutation spectrum affecting alphaIIbbeta3 Integrin in glanzmann thrombasthenia: screening of the ITGA2B and ITGB3 genes in a large international cohort;Nurden;Hum Mutat,2015

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3. 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;Blood Coagulation & Fibrinolysis;2018-12