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Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings
Germline mutations in the RING finger protein gene RNF168 have been identified in a combined immunodeficiency disorder called RIDDLE syndrome. Since only two patients have been described with somewhat different phenotypes, there is need to identify further patients. Here, we report on two Polish sib...
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| 出版年: | Front Immunol |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5722808/ https://ncbi.nlm.nih.gov/pubmed/29255463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2017.01683 |
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