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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Detalhes bibliográficos
Main Authors: Dong, F, Hoefsloot, L H, Schelen, A M, Broeders, C A, Meijer, Y, Veerman, A J, Touw, I P, Löwenberg, B
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC43809/
https://ncbi.nlm.nih.gov/pubmed/7514305
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