DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency (SCID). Hypomorphic mutations in the non-homologous end-joining gene DCLRE1C (encoding ARTEMIS) have been described to cause atypical SCID, Om...

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Publicat a:Hum Mol Genet
Autors principals: Volk, Timo, Pannicke, Ulrich, Reisli, Ismail, Bulashevska, Alla, Ritter, Julia, Björkman, Andrea, Schäffer, Alejandro A., Fliegauf, Manfred, Sayar, Esra H., Salzer, Ulrich, Fisch, Paul, Pfeifer, Dietmar, Di Virgilio, Michela, Cao, Hongzhi, Yang, Fang, Zimmermann, Karin, Keles, Sevgi, Caliskaner, Zafer, Güner, S¸ükrü, Schindler, Detlev, Hammarström, Lennart, Rizzi, Marta, Hummel, Michael, Pan-Hammarström, Qiang, Schwarz, Klaus, Grimbacher, Bodo
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2015
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4664172/
https://ncbi.nlm.nih.gov/pubmed/26476407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv437
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