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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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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 |