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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3018258/
https://www.ncbi.nlm.nih.gov/pubmed/20803142
http://dx.doi.org/10.1007/s00277-010-1056-4

Ejemplares similares

Ejemplares similares