New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and Experimental Pharmacology and Physiology"
DOI: 10.1111/1440-1681.13697
Abstract: Upshaw‐Schulman syndrome (USS)—rare autosomal recessive disease that affects read more here.
Keywords: adamts13 gene; trp387ser; missense mutation; mutation trp387ser ... See more keywords
An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review
Sign Up to like & getrecommendations! Published in 2021 at "BMC Medical Genomics"
DOI: 10.1186/s12920-021-01099-3
Abstract: Background Mutations in the ADAMTS13 gene can lead to an ADAMTS13 enzyme deficiency, which is related to Upshaw–Schulman syndrome (USS). USS is a common type of thrombotic thrombocytopenic purpura (TTP). Here we present a very… read more here.
Keywords: adamts13 gene; case; thrombotic thrombocytopenic; gene ... See more keywords