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Article

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

Human mutation - 1 Sept 2007

Salipante Stephen J, Benson Kathleen F, Luty Joanna, Hadavi Valeh, Kariminejad Roxana, Kariminejad Mohamad H, Rezaei Nima, Horwitz Marshall S

Abstract excerpt

Heterozygous mutations of ELA2, encoding the protease neutrophil elastase (NE), cause either autosomal dominant cyclic neutropenia or severe congenital neutropenia (SCN). Three hypotheses have been proposed for how allelic mutations produce these different disorders: 1) disruption of proteolytic activity; 2) mislocalization of the protein; or 3) destabilization of the protein resulting in induction of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 17436313
DOI: 10.1002/humu.20529

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