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Hereditary Thrombotic Thrombocytopenic Purpura

Hereditary Thrombotic Thrombocytopenic Purpura

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10606562

Hereditary Thrombotic Thrombocytopenic Purpura

About this item

Full title

Hereditary Thrombotic Thrombocytopenic Purpura

Publisher

Basel: MDPI AG

Journal title

Genes, 2023-10, Vol.14 (10), p.1956

Language

English

Formats

Publication information

Publisher

Basel: MDPI AG

More information

Scope and Contents

Contents

Hereditary thrombotic thrombocytopenic purpura (hTTP), also known as Upshaw–Schulman syndrome, is a rare genetic disorder caused by mutations in the ADAMTS13 gene that leads to decreased or absent production of the plasma von Willebrand factor (VWF)-cleaving metalloprotease ADAMTS13. The result is circulating ultra-large multimers of VWF that can c...

Alternative Titles

Full title

Hereditary Thrombotic Thrombocytopenic Purpura

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10606562

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10606562

Other Identifiers

ISSN

2073-4425

E-ISSN

2073-4425

DOI

10.3390/genes14101956

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