Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations

BACKGROUND: Glanzmann thrombasthenia (GT) is a rare autosomal recessive abnormality of platelet aggregation with quantitative and/or qualitative abnormality of αIIbβ3 integrin. The αIIbβ3 is a platelet fibrinogen receptor, which is required for platelet aggregation, firm adhesion, and also spreading...

Descripción completa

Detalles Bibliográficos
Autores principales: Zafarghandi Motlagh, F., Fallah, M. S., Bagherian, H., Shirzadeh, T., Ghasri, S., Dabbagh, S., Jamali, M., Salehi, Z., Abiri, M., Zeinali, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487065/
https://www.ncbi.nlm.nih.gov/pubmed/31029159
http://dx.doi.org/10.1186/s13023-019-1042-4

Ejemplares similares

Ejemplares similares