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Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report

BACKGROUND: Mutations in the ADAMTS13 gene family have been reported to cause congenital thrombotic thrombocytopenic purpura (cTTP), a rare disease characterized by thrombocytopenia and hemolytic anemia. Nearly 150 causative mutations in ADAMTS13 have been identified; however, only a few of them wer...

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Detalles Bibliográficos
Autores principales: Hou, Ling, Du, Yue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082964/
https://www.ncbi.nlm.nih.gov/pubmed/32197596
http://dx.doi.org/10.1186/s12881-020-00996-1