Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation

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 25 years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes ELANE, CS...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: van de Vosse, Esther, Verhard, Els M., Tool, Anton J. T., de Visser, Adriëtte W., Kuijpers, Taco W., Hiemstra, Pieter S., van Dissel, Jaap T.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer-Verlag 2010
Soggetti:
Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3018258/
https://ncbi.nlm.nih.gov/pubmed/20803142
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00277-010-1056-4
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi