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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Detalles Bibliográficos
Autores principales: Shim, Ye Jee, Kim, Hee-Jin, Suh, Jang Soo, Lee, Kun Soo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230029/
https://www.ncbi.nlm.nih.gov/pubmed/22148006
http://dx.doi.org/10.3346/jkms.2011.26.12.1646

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230029/
https://www.ncbi.nlm.nih.gov/pubmed/22148006
http://dx.doi.org/10.3346/jkms.2011.26.12.1646

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