Fig. 3
Sanger sequencing of the proband and his patients. The proband and his father are heterozygous mutation, the site of missense mutation (c.1648G > A, p.V550I) is shown with an arrow
Fig. 3 | BMC Pediatrics
Sanger sequencing of the proband and his patients. The proband and his father are heterozygous mutation, the site of missense mutation (c.1648G > A, p.V550I) is shown with an arrow