Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
In the platelets of a type II Glanzmann thrombasthenia patient, the amount of glycoprotein (GP) IIb and IIIa was significantly reduced. Three novel mutations were identified in the GPIIb gene (c.440C→G/p.Leu116Val, c.1772_1773insG/p.Asp560 GlyfsX16 and c.2438C→A/p.His782Asn). p.Leu116Val did not rep...
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| Principais autores: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Ferrata Storti Foundation
2007-05-01
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| Colecção: | Haematologica |
| Acesso em linha: | https://haematologica.org/article/view/4446 |
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