A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation

NF-κB signaling, acting through NFKB1 dependent canonical and NFKB2 dependent non-canonical pathways plays a critical role in inflammatory and immune responses. Recent studies have associated mutations in these two genes with a common variable immunodeficiency (CVID). While evaluating a female patie...

Descripción completa

Detalles Bibliográficos
Autores principales: Kotlinowski, Jerzy, Bukowska-Strakova, Karolina, Koppolu, Agnieszka, Kosińska, Joanna, Pydyn, Natalia, Stawinski, Piotr, Wilamowski, Mateusz, Nowak, Witold, Józkowicz, Alicja, Baran, Jarosław, Płoski, Rafał, Jura, Jolanta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399389/
https://www.ncbi.nlm.nih.gov/pubmed/30863427
http://dx.doi.org/10.3389/fgene.2019.00140

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399389/
https://www.ncbi.nlm.nih.gov/pubmed/30863427
http://dx.doi.org/10.3389/fgene.2019.00140

Ejemplares similares