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Article

New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report.

Clinical and experimental pharmacology & physiology - 1 Nov 2022

Poznyakova Julia, Pshenichnikova Olesya, Surin Vadim, Klebanova Elizaveta, Galstyan Genady

Abstract excerpt

Upshaw-Schulman syndrome (USS)-rare autosomal recessive disease that affects <1/1 000 000 individuals. It is characterized by the massive formation of platelet thrombi in the microcirculation accompanied by haemolytic anaemia, thrombocytopenia and clinical and laboratory signs of renal and neurological failure. USS is caused by mutations in the ADAMTS13 gene. Mutations in the ADAM metallopeptidase with...

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Identifiers

PMID: 35762256
DOI: 10.1111/1440-1681.13697

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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