Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.
Severe congenital neutropenia (Kostmann syndrome) is characterized by profound absolute neutropenia and a maturation arrest of marrow progenitor cells at the promyelocyte-myelocyte stage. Marrow cells from such patients frequently display a reduced responsiveness to granulocyte-colony-stimulating fa...
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| Publicat a: | Proc Natl Acad Sci U S A |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
1994
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC43809/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7514305/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.10.4480 |
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