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...

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Détails bibliographiques
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Springer-Verlag 2010
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Original Article
Accès en ligne: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
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