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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Publicado en:Front Immunol
Autores principales: Pietrucha, Barbara, Heropolitańska-Pliszka, Edyta, Geffers, Robert, Enßen, Julia, Wieland, Britta, Bogdanova, Natalia Valerijevna, Dörk, Thilo
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2017
Materias:
Immunology
Acceso en línea: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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