Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)

Figure 3

Sequencing results of the SEDL gene. As shown in the diagram, panels (a), (b), and (c) represent the patient sequence, the normal sequence, and the carrier sequence, respectively. The location of the arrow is the mutation site reported in the study. (a) Patient sequence (hemizygote), a missense mutation occurred in the patient’s gene, G to C. (b) Normal sequence, the normal base in the gene at the sequenced site is C. (c) Carrier sequence (heterozygote). The mutation in female carriers is S (G + C).

(a)

(b)

(c)