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...
Gorde:
| Egile Nagusiak: | , , |
|---|---|
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Ferrata Storti Foundation
2009-04-01
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| Saila: | Haematologica |
| Sarrera elektronikoa: | https://haematologica.org/article/view/5227 |
| Etiketak: |
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