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Article

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia.

Blood - 15 Jul 2002

Ancliff Phil J, Gale Rosemary E, Watts Michael J, Liesner Ri, Hann Ian M, Strobel Stephan, Linch David C

Abstract excerpt

Heterozygous mutations in neutrophil elastase have been detected in many sporadic cases of congenital neutropenia. However, a convincing pathogenetic mechanism has not been established, and it is unclear whether the effects of the mutant enzyme occur within the cell of production or are paracrine in nature. The healthy father of a patient was demonstrated to be mosaic for his daughter's Cys42Arg elastase...

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Identifiers

PMID: 12091371
DOI: 10.1182/blood-2002-01-0060

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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