Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) or GP IIIa (CD61). GP IIb and GP IIIa are encoded by the ITGA2B and ITGB3 genes, respectively. Herein, we described a 7...

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Detalles Bibliográficos
Autores principales: Wang, Zhengrong, Xu, Yuqing, Sun, Yixi, Wang, Shuang, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871544/
https://www.ncbi.nlm.nih.gov/pubmed/36704147
http://dx.doi.org/10.3389/fped.2022.1062900

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9871544/
https://www.ncbi.nlm.nih.gov/pubmed/36704147
http://dx.doi.org/10.3389/fped.2022.1062900

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