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Article

Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia.

British journal of haematology - 1 Aug 2008

Ward Alister C, Gits Judith, Majeed Fidel, Aprikyan Andrew A, Lewis Rowena S, O'Sullivan Lynda A, Freedman Melvin, Shigdar Sarah, Touw Ivo P, Dale David C, Dror Yigal

Abstract excerpt

Most severe congenital neutropenia (SCN) cases possess constitutive neutrophil elastase mutations; a smaller cohort has acquired mutations truncating the granulocyte colony-stimulating factor receptor (G-CSF-R). We have described a case with constitutive extracellular G-CSF-R mutation hyporespons...

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Identifiers

PMID: 18513286
DOI: 10.1111/j.1365-2141.2008.07224.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18513286-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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