Article
Digenic mutations in severe congenital neutropenia.
Haematologica - 1 Jul 2010
Germeshausen Manuela, Zeidler Cornelia, Stuhrmann Manfred, Lanciotti Marina, Ballmaier Matthias, Welte Karl
Abstract excerpt
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 heterogeneity even within the yet defined genetic subtypes points to additional genetic and/or epigenetic influences on...
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