Haploinsufficiency of the platelet P2Y12 gene in a family with congenital bleeding diathesis
Two sisters with inherited, severe platelet dysfunction associated with P2Y12 deficiency displayed a single base pair deletion in their P2Y12 genes (378delC), resulting in a frame-shift and premature truncation of the protein. GL, the son of one of them, displayed mild platelet dysfunction and norma...
Kaydedildi:
| Asıl Yazarlar: | , , |
|---|---|
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Ferrata Storti Foundation
2009-04-01
|
| Seri Bilgileri: | Haematologica |
| Online Erişim: | https://haematologica.org/article/view/5227 |
| Etiketler: |
Etiket eklenmemiş, İlk siz ekleyin!
|