Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders

Omenn syndrome was recently found to be caused by missense mutations in RAG1 or RAG2 gene that result in partial V(D)J recombination activity. Although the clinical hallmarks of the disease are well defined, there have been several cases with clinical findings similar to, but distinct from Omenn syn...

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Hlavní autoři: Wada, T, Takei, K, Kudo, M, Shimura, S, Kasahara, Y, Koizumi, S, Kawa-Ha, K, Ishida, Y, Imashuku, S, Seki, H, Yachie, A
Médium: Artigo
Jazyk:Inglês
Vydáno: Blackwell Science Inc 2000
Témata:
Immunodeficiency
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1905546/
https://ncbi.nlm.nih.gov/pubmed/10606976
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1046/j.1365-2249.2000.01101.x
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