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A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard–Soulier syndrome: case report
We need to be aware of rare causes of persistent thrombocytopenia as Bernard–Soulier syndrome (BSS). When BSS is suspected based on family history and giant platelets, genetic test for mutations of GPIbIXV is necessary. Management varies once you recognize the cause. Platelets transfusion and antifi...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889233/ https://www.ncbi.nlm.nih.gov/pubmed/29636940 http://dx.doi.org/10.1002/ccr3.1427 |