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Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature
OBJECTIVE: To genetically and functionally characterize mutations of c-Mpl, that lead to thrombocytopenia in a child with congenital amegakaryocytic thrombocytopenia (CAMT). METHODS: We identified two c-Mpl mutations in a child with clinical features of CAMT, one a previously described mutation in t...
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| Autores principales: | , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2009
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2694734/ https://ncbi.nlm.nih.gov/pubmed/19302922 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exphem.2009.01.001 |
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