Next-Generation Sequencing Based Approach to Identify Underlying Genetic Defects of Glanzmann Thrombasthenia-Reference-Cited by-同舟云学术

Next-Generation Sequencing Based Approach to Identify Underlying Genetic Defects of Glanzmann Thrombasthenia

Published:2020-10-24 Issue:3 Volume:37 Page:414-421
ISSN:0971-4502
Container-title:Indian Journal of Hematology and Blood Transfusion
language:en
Short-container-title:Indian J Hematol Blood Transfus

Author:

Sharma Ritika,Jamwal Manu,Senee Hari Kishan,Uppal Varun,Hira Jasbir Kaur,Bose Parveen,Kumar Narender,Bansal Deepak,Trehan Amita,Malhotra Pankaj,Ahluwalia Jasmina,Das Reena^ORCID

Funder

Department of Biotechnology, Ministry of Science and Technology

Publisher

Springer Science and Business Media LLC

Subject

Hematology

Link

https://link.springer.com/content/pdf/10.1007/s12288-020-01368-8.pdf

Reference16 articles.

1. Botero JP, Lee K, Branchford BR et al (2020) Glanzmann thrombasthenia: genetic basis and clinical correlates. Haematologica 105:888–894

2. Owaidah T, Saleh M, Baz B et al (2019) Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. NPJ Genomic Med 4:4. https://doi.org/10.1038/s41525-019-0079-6

3. Nurden AT, Fiore M, Nurden P, Pillois X (2011) Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood 118:5996–6005

4. Zafarghandi Motlagh F, Fallah MS, Bagherian H et al (2019) Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations. Orphanet J Rare Dis 14:87. https://doi.org/10.1186/s13023-019-1042-4

5. Karaman K, Yürektürk E, Geylan H et al (2020) Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann’s thrombasthenia living in Eastern Turkey. Platelets. https://doi.org/10.1080/09537104.2020.1732331

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