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Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report
Hereditary thrombotic thrombocytopenic purpura (TTP) is a genetic condition caused by mutations in ADAMTS13 gene, leading to very low levels of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type I domain 13) activity. It is a rare condition associated with multiple reported mutatio...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668320/ https://www.ncbi.nlm.nih.gov/pubmed/31423067 http://dx.doi.org/10.4103/ijn.IJN_241_18 |