Case Report

X-Linked Chronic Granulomatous Disease: Initial Presentation with Intracranial Hemorrhage from Vitamin K Deficiency in Infant

Figure 3

Electropherogram of the exon 7 of CYBB gene revealed a hemizygous c.676C > T (p.Arg226Ter) nonsense mutation in the patient’s DNA (a), a heterozygous for the same mutation in the maternal DNA (b), and normal DNA sequence (c).
(a)
(b)
(c)