Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency

OBJECTIVES: The objective of the present study was to explain why two siblings carrying both the same homozygous pathogenic mutation for the autoinflammatory disease hyper IgD syndrome, show opposite phenotypes, that is, the first being asymptomatic, the second presenting all classical characteristi...

Descripción completa

Detalles Bibliográficos
Autores principales: Carapito, Raphael, Carapito, Christine, Morlon, Aurore, Paul, Nicodème, Vaca Jacome, Alvaro Sebastian, Alsaleh, Ghada, Rolli, Véronique, Tahar, Ouria, Aouadi, Ismail, Rompais, Magali, Delalande, François, Pichot, Angélique, Georgel, Philippe, Messer, Laurent, Sibilia, Jean, Cianferani, Sarah, Van Dorsselaer, Alain, Bahram, Seiamak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Basic and Translational Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225799/
https://www.ncbi.nlm.nih.gov/pubmed/30030262
http://dx.doi.org/10.1136/annrheumdis-2018-213524

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225799/
https://www.ncbi.nlm.nih.gov/pubmed/30030262
http://dx.doi.org/10.1136/annrheumdis-2018-213524

Ejemplares similares