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Glanzmann Thrombasthenia in Pakistani Patients: Identification of 7 Novel Pathogenic Variants in the Fibrinogen Receptor αIIbβ3

Glanzmann thrombasthenia (GT) is a rare autosomal recessive inherited platelet disorder occurring frequently in populations with high incidence of consanguineous marriages. GT is characterized by quantitative and/or qualitative defect of the platelet αIIbβ3 (GPIIb/IIIa) receptor caused by pathogenic...

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Detalles Bibliográficos
Autores principales: Siddiqi, Muhammad Younus Jamal, Boeckelmann, Doris, Naz, Arshi, Imran, Ayisha, Ahmed, Shariq, Najmuddin, Akbar, Zieger, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9856889/
https://www.ncbi.nlm.nih.gov/pubmed/36672149
http://dx.doi.org/10.3390/cells12020213