Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees-Reference-Cited by-同舟云学术

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

Published:2020-06-19 Issue:5 Volume:42 Page:628-635
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int J Lab Hem

Author:

Ali Tooba¹,Gul Saira²,Amar Ali¹^ORCID,Shakoor Madiha¹,Farhan Saima³,Mohsin Shahida²,Khaliq Shagufta¹

Affiliation:

1. Department of Human Genetics and Molecular Biology University of Health Sciences Lahore Pakistan

2. Department of Haematology University of Health Sciences Lahore Pakistan

3. Haematology and Transfusion Medicine Division The Children’s Hospital and Institute of Child Health Lahore Pakistan

Publisher

Wiley

Subject

Biochemistry (medical),Clinical Biochemistry,Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.13266

Reference31 articles.

1. Glanzmann's thrombasthenia: the spectrum of clinical disease

2. αIIbβ3 integrin: new allelic variants in Glanzmann thrombasthenia, effects onITGA2BandITGB3mRNA splicing, expression, and structure-function

3. Glanzmann’s thrombasthenia (defective platelet integrin αIIb-β3): proposals for management between evidence and open issues

4. Glanzmann thrombasthenia

5. Glanzmann's Thrombasthenia: An Overview

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