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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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| Izdano u: | J Allergy Clin Immunol |
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| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2016
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| Teme: | |
| Online pristup: | 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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