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Novel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia
Severe congenital neutropenia is a heterozygous group of bone marrow failure syndromes that cause lifelong infections. Mutation of the ELANE gene encoding human neutrophil elastase is the most common genetic alteration. A Korean female pediatric patient was admitted because of recurrent cervical lym...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Academy of Medical Sciences
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3230029/ https://ncbi.nlm.nih.gov/pubmed/22148006 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2011.26.12.1646 |
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