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The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia

โœ Scribed by Germeshausen, Manuela; Deerberg, Sabine; Peter, Yvonne; Reimer, Christina; Kratz, Christian P.; Ballmaier, Matthias


Book ID
121754733
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
368 KB
Volume
34
Category
Article
ISSN
1059-7794

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Double de novo mutations of ELA2 in cycl
โœ Stephen J. Salipante; Kathleen F. Benson; Joanna Luty; Valeh Hadavi; Roxana Kari ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 242 KB

## Communicated by Mauno Vihinen 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 disorder