A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis

Reported synonymous substitutions are generally non-pathogenic, and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion. In a case of IL7 receptor deficiency severe combined immunodeficiency (SCID), the relevance of a non-reported synonymous variant was o...

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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: Gallego-Bustos, Fernando, Gotea, Valer, Ramos-Amador, José T., Rodríguez-Pena, Rebeca, Gil-Herrera, Juana, Sastre, Ana, Delmiro, Aitor, Rai, Ghadi, Elnitski, Laura, González-Granado, Luis I., Allende, Luis M.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2016
Assuntos:
Immunology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5081475/
https://ncbi.nlm.nih.gov/pubmed/27833609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2016.00443
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