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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...

詳細記述

保存先:
書誌詳細
出版年:Front Immunol
主要な著者: Pietrucha, Barbara, Heropolitańska-Pliszka, Edyta, Geffers, Robert, Enßen, Julia, Wieland, Britta, Bogdanova, Natalia Valerijevna, Dörk, Thilo
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2017
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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