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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Ferrata Storti Foundation
2010
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| Assuntos: | |
| Acesso em linha: | 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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