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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2010
Assuntos:
Original Article
Acesso em linha: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: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados