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...

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Detalles Bibliográficos
Autores principales: Leinøe, Eva, Nielsen, Ove Juul, Jønson, Lars, Rossing, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990812/
https://www.ncbi.nlm.nih.gov/pubmed/27551680
http://dx.doi.org/10.1101/mcs.a000828

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990812/
https://www.ncbi.nlm.nih.gov/pubmed/27551680
http://dx.doi.org/10.1101/mcs.a000828

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