. . . . . . . "[The diagnosis of Upshaw Schulman Syndrome was confirmed by molecular testing of the gene encoding the von Willebrand factor cleaving protease ADAMTS13 which revealed compound heterozygosity for 1045C>T (R349C) and 3107C>A (S1036X) in the patients of family 1 and homozygosity for the common mutation 4143insA in the patients of family 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:18:05+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .