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Haploinsufficiency of the platelet P2Y(12) gene in a family with congenital bleeding diathesis
Two sisters with inherited, severe platelet dysfunction associated with P2Y(12) deficiency displayed a single base pair deletion in their P2Y(12) 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 n...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Ferrata Storti Foundation
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2663622/ https://ncbi.nlm.nih.gov/pubmed/19229056 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.13611 |
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