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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Bibliografiska uppgifter
I publikationen:Front Immunol
Huvudupphovsmän: Pietrucha, Barbara, Heropolitańska-Pliszka, Edyta, Geffers, Robert, Enßen, Julia, Wieland, Britta, Bogdanova, Natalia Valerijevna, Dörk, Thilo
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2017
Ämnen:
Immunology
Länkar: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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