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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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Udgivet i:Proc Natl Acad Sci U S A
Principais autores: Dong, F, Hoefsloot, L H, Schelen, A M, Broeders, C A, Meijer, Y, Veerman, A J, Touw, I P, Löwenberg, B
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1994
Fag:
Research Article
Online adgang: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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