Whole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a possible contributing frameshift mutation in C3AR1
The increasing availability of genome-wide analysis has made it possible to rapidly sequence the exome of patients with undiagnosed or unresolved medical conditions. Here, we present the case of a 64-yr-old male patient with schistocytes in the peripheral blood smear and a complex and life-threateni...
| Main Authors: | , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Cold Spring Harbor Laboratory Press
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990812/ |