Phenotypical heterogeneity in RAG‐deficient patients from a highly consanguineous population

Mutations affecting recombination activation genes RAG1 and RAG2 are associated with variable phenotypes, depending on the residual recombinase activity. The aim of this study is to describe a variety of clinical phenotypes in RAG‐deficient patients from the highly consanguineous Egyptian population...

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Dades bibliogràfiques
Publicat a:Clin Exp Immunol
Autors principals: Meshaal, S. S., El Hawary, R. E., Abd Elaziz, D. S., Eldash, A., Alkady, R., Lotfy, S., Mauracher, A. A., Opitz, L., Pachlopnik Schmid, J., van der Burg, M., Chou, J., Galal, N. M., Boutros, J. A., Geha, R., Elmarsafy, A. M.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6330646/
https://ncbi.nlm.nih.gov/pubmed/30307608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cei.13222
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