[Four mutations in ADAMTS13 which led to a secretion defect, a loss of enzymatic activity and a decreased binding to the substrate, are responsible for the hereditary thrombotic thrombocytopenic purpura.]. 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