Digenic mutations in severe congenital neutropenia
Abstract
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 the disease phenotype. We...
Paper Details
Title
Digenic mutations in severe congenital neutropenia
Published Date
Mar 10, 2010
Journal
Volume
95
Issue
7
Pages
1207 - 1210
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