[The present study investigated the molecular defects underlying disease in 4 patients with Type 1, X-linked Hyper-IgM syndrome 4 distinct CD40L mutations, 2 of them which have not been previously described.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE