Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report
Abstract 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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-03-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12881-020-00996-1 |