Digenic mutations in severe congenital neutropenia

Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe neutropenia, e.g. ELANE, HAX1 and G6PC3. Although congenital neutropenia is considered to be a group of monogenic disorders, the phenotypic hete...

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Bibliografiska uppgifter
Huvudupphovsmän: Germeshausen, Manuela, Zeidler, Cornelia, Stuhrmann, Manfred, Lanciotti, Marina, Ballmaier, Matthias, Welte, Karl
Materialtyp: Artigo
Språk:Inglês
Publicerad: Ferrata Storti Foundation 2010
Ämnen:
Brief Reports
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2895047/
https://ncbi.nlm.nih.gov/pubmed/20220065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.017665
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