The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome

Upshaw –Schulman syndrome (USS) is an autosomal recessive disease characterized by thrombotic microangiopathies caused by pathogenic variants in ADAMTS13. We aimed to (1) curate the ADAMTS13 gene pathogenic var...

Source: BMC Genetics - November 17, 2021 Category: Genetics & Stem Cells Authors: Ting Zhao, Shanghua Fan and Liu Sun Tags: Research Source Type: research