ADAMTS13 gene; a novel splicing site mutation in a case with thrombotic thrombocytopenic purpura
A plasma protease, ADAMTS13, cleaves the von Willebrand factor (VWF) and its deficiency is associated with the pathogenesis of thrombotic thrombocytopenic purpura (TTP). According to the Human Gene Mutation Database (HGMD), about 150 mutations have been identified in the ADAMTS13 gene. A 23-year-old...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Society of Diabetic Nephropathy Prevention
2021-05-01
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| Series: | Journal of Nephropharmacology |
| Subjects: | |
| Online Access: | https://jnephropharmacology.com/PDF/npj-10373 |