Stephen J. Perkins

An Interactive Database of ADAMTS13 Variants Yields Novel Insight into Thrombotic Thrombocytopenic Purpura

Congenital thrombotic thrombocytopenic purpura (cTTP) is caused by pathogenic variants in ADAMTS13. Despite the continual expansion of genetic data, there remains no comprehensive, accessible database of ADAMTS13 variation available for clinicians and researchers. We performed a...