Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia

The most common causes of congenital neutropenia are mutations in the ELANE (Elastase, Neutrophil Expressed) gene (19p13.3), mostly in exon 5 and the distal portion of exon 4, which result in different clinical phenotypes of neutropenia. Here, we report two pathogenic mutations in ELANE, namely, c.6...

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Detalles Bibliográficos
Autores principales: Núñez-Núñez, María Enriqueta, Lona-Reyes, Juan Carlos, López-Barragán, Brenda, Cruz-Osorio, Rosa Margarita, Gutiérrez-Zepeda, Bricia Melissa, Quintero-Ramos, Antonio, Becerra-Loaiza, Denisse Stephania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547563/
https://www.ncbi.nlm.nih.gov/pubmed/37795094
http://dx.doi.org/10.3389/fimmu.2023.1194262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10547563/
https://www.ncbi.nlm.nih.gov/pubmed/37795094
http://dx.doi.org/10.3389/fimmu.2023.1194262

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