Study Detail

TitleWhole-exome sequencing of a patient with severe and complex hemostatic abnormalities reveals a pathogenic frameshift mutation in C3AR1
Study TypeOther
Abstract 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-year-old male patient with schistocytes in the peripheral blood smear and a complex and life-threate .. [more]
Description 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-year-old male patient with schistocytes in the peripheral blood smear and a complex and life-threate .. [more]
Center NameCenter for Genomic Medicin