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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Immunol
Prif Awduron: Pietrucha, Barbara, Heropolitańska-Pliszka, Edyta, Geffers, Robert, Enßen, Julia, Wieland, Britta, Bogdanova, Natalia Valerijevna, Dörk, Thilo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2017
Pynciau:
Immunology
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg