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ELANE Mutations in Cyclic and Severe Congenital Neutropenia

✍ Scribed by Horwitz, Marshall S.; Corey, Seth J.; Grimes, H. Leighton; Tidwell, Timothy

Book ID
121717891
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
491 KB
Volume
27
Category
Article
ISSN
0889-8588

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πŸ“œ SIMILAR VOLUMES

Severe congenital neutropenia in a multi
Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation
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We have analysed a family with nine congenital neutropenia patients in four generations, several of which we have studied in a long-term follow-up of over 25Β years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes __ELANE__

Double de novo mutations of ELA2 in cycl
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia
✍ Stephen J. Salipante; Kathleen F. Benson; Joanna Luty; Valeh Hadavi; Roxana Kari πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 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