Upshaw-Schulman Syndrome: Novel homozygous missense mutation

Thromb Res. 2017 Oct:158:83-85. doi: 10.1016/j.thromres.2017.08.013. Epub 2017 Aug 23.

Authors

Hector Sarmiento, Itxiar Molina Pomares, Pablo Manresa Manresa, Francisco López Castaño, Luis M Hernandez, Pascual Marco

PMID: 28858683
DOI: 10.1016/j.thromres.2017.08.013

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Female
Humans
Mutation, Missense / genetics*
Purpura, Thrombotic Thrombocytopenic / genetics*
Purpura, Thrombotic Thrombocytopenic / pathology