Estimated disease incidence of RAG1/2 mutations: a case report and querying the Exome Aggregation Consortium

RAG deficiency is emerging as one of the leading causes of SCID and leaky SCID with an estimated incidence of 1:336,000. Hypomorphic mutations in the RAG genes can also lead to highly variable delayed-onset combined immunodeficiency diseases. We estimate the population genetic frequency of these hyp...

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Detalhes bibliográficos
Publicado no:J Allergy Clin Immunol
Main Authors: Kumánovics, Attila, Lee, Yu Nee, Close, Devin W., Coonrod, Emily M., Ujhazi, Boglarka, Chen, Karin, MacArthur, Daniel, Krivan, Gergely, Notarangelo, Luigi D., Walter, Jolan E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5303162/
https://ncbi.nlm.nih.gov/pubmed/27609655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2016.07.027
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