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- Q5957527 subject Q7004986.
- Q5957527 abstract "The fifth type of hyper-IgM syndrome has been characterized in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact. These three patients instead had mutations in the catalytic domain of uracil-DNA glycosylase, an enzyme that removes uracil from DNA. In both type 2 and type 5 hyper-IgM syndromes, the patients are profoundly deficient in IgG and IgA because the B cells can't carry out the recombination steps necessary to class-switch.".
- Q5957527 wikiPageWikiLink Q13527914.
- Q5957527 wikiPageWikiLink Q1617658.
- Q5957527 wikiPageWikiLink Q18043017.
- Q5957527 wikiPageWikiLink Q7004986.
- Q5957527 wikiPageWikiLink Q7430.
- Q5957527 comment "The fifth type of hyper-IgM syndrome has been characterized in three patients from France and Japan. The symptoms are similar to hyper IgM syndrome type 2, but the AICDA gene is intact. These three patients instead had mutations in the catalytic domain of uracil-DNA glycosylase, an enzyme that removes uracil from DNA.".
- Q5957527 label "Hyper-IgM syndrome type 5".