Targeted next-generation sequencing identifies a novel nonsense mutation in ANK1 for hereditary spherocytosis: A case report

Figure 1 A heterozygous mutation in ANK1 (exon23:c. G2467T:p.E823X) was detected in the girl and her father, whereas her mother was wild type. A: A novel mutation annotated as c.G2467T:p.E823X was identified. An arrow indicates the mutation site; B: The family tree and genotype at the ANK1. Black symbols denote patients with gene mutation.