Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation

Defects in filamin A (FLNA) gene could lead to low platelet counts and decreased surface expression of glycoprotein (GP) Ibα. Here, we report and investigate the FLNA genomic alteration of a case with Bernard-Soulier syndrome (BSS), a rare hereditary bleeding disorder caused by quantitative or quali...

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Detalles Bibliográficos
Autores principales: Li, Jiaming, Dai, KeSheng, Wang, Zhaoyue, Cao, Lijuan, Bai, Xia, Ruan, Changgeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496858/
https://www.ncbi.nlm.nih.gov/pubmed/26133172
http://dx.doi.org/10.1186/s13045-015-0171-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496858/
https://www.ncbi.nlm.nih.gov/pubmed/26133172
http://dx.doi.org/10.1186/s13045-015-0171-z

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