LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

BACKGROUND: Clinical immunology has traditionally relied on accurate phenotyping of the patient’s immune dysfunction for the identification of a candidate gene or genes for sequencing and molecular confirmation. Although this is also true for other branches of medicine, the marked variability in imm...

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Autori principali: Alangari, Abdullah, Alsultan, Abdulrahman, Adly, Nouran, Massaad, Michel J., Kiani, Iram Shakir, Aljebreen, Abdulrahman, Raddaoui, Emad, Almomen, Abdul-Kareem, Al-Muhsen, Saleh, Geha, Raif S., Alkuraya, Fowzan S.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3582381/
https://ncbi.nlm.nih.gov/pubmed/22721650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2012.05.043
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