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...

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Detalles Bibliográficos
Autores principales: Yadav, Raj K., Ariga, Kishore K., Subbiah, Arunkumar, Bagchi, Soumita, Mahajan, Sandeep, Bhowmik, Dipankar, Agarwal, Sanjay K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
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

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