Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

In hyper-IgE syndromes (HIES), a group of primary immunodeficiencies clinically overlapping with atopic dermatitis, early diagnosis is crucial to initiate appropriate therapy and prevent irreversible complications. Identification of underlying gene defects such as in DOCK8 and STAT3 and correspondin...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Hagl, Beate, Spielberger, Benedikt D., Thoene, Silvia, Bonnal, Sophie, Mertes, Christian, Winter, Christof, Nijman, Isaac J., Verduin, Shira, Eberherr, Andreas C., Puel, Anne, Schindler, Detlev, Ruland, Jürgen, Meitinger, Thomas, Gagneur, Julien, Orange, Jordan S., van Gijn, Marielle E., Renner, Ellen D.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6233225/
https://ncbi.nlm.nih.gov/pubmed/30425284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-34953-z
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados