Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder. Around 490 mutations in ITGA2B and ITGB3 genes were reported. We aimed to use targeted next-generation sequencing (NGS) to identify variants in patients with GT. We screened 72 individuals (including unaffected family mem...

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書誌詳細
出版年:NPJ Genom Med
主要な著者: Owaidah, Tarek, Saleh, Mahasen, Baz, Batoul, Abdulaziz, Basma, Alzahrani, Hazza, Tarawah, Ahmed, Almusa, Abdulrahman, AlNounou, Randa, AbaAlkhail, Hala, Al-Numair, Nouf, Altahan, Rahaf, Abouelhoda, Mohammed, Alamoudi, Thamer, Monies, Dorota, Jabaan, Amjad, Al Tassan, Nada
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2019
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6375963/
https://ncbi.nlm.nih.gov/pubmed/30792900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-019-0079-6
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