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__
β¦ LIBER β¦
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
β Scribed by Philip S. Rosenberg; Blanche P. Alter; Daniel C. Link; Steven Stein; Elin Rodger; Audrey A. Bolyard; Andrew A. Aprikyan; Mary A. Bonilla; Yigal Dror; George Kannourakis; Peter E. Newburger; Laurence A. Boxer; David C. Dale
- Book ID
- 108675518
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 145 KB
- Volume
- 0
- Category
- Article
- ISSN
- 0007-1048
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Severe congenital neutropenia in a multi
β
Esther van de Vosse; Els M. Verhard; Anton J. T. Tool; AdriΓ«tte W. de Visser; Ta
π
Article
π
2010
π
Springer
π
English
β 218 KB
Genetics and Pathophysiology of Severe C
β
Boztug, Kaan; Klein, Christoph
π
Article
π
2013
π
Elsevier Science
π
English
β 154 KB
Neutrophil elastase mutations in cyclic
β
Feng-Qian Li; Kathleen F. Benson; Marshall Horwitz; intro by George Stamatoyanno
π
Article
π
2000
π
Elsevier Science
π
English
β 17 KB
ELANE Mutations in Cyclic and Severe Con
β
Horwitz, Marshall S.; Corey, Seth J.; Grimes, H. Leighton; Tidwell, Timothy
π
Article
π
2013
π
Elsevier Science
π
English
β 491 KB
Incidence of severe congenital neutropen
β
GΓΆran Carlsson; Anders Fasth; Elisabet BerglΓΆf; Kristina Lagerstedt-Robinson; Ma
π
Article
π
2012
π
John Wiley and Sons
π
English
β 134 KB
Double de novo mutations of ELA2 in cycl
β
Stephen J. Salipante; Kathleen F. Benson; Joanna Luty; Valeh Hadavi; Roxana Kari
π
Article
π
2007
π
John Wiley and Sons
π
English
β 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