Official websites use .gov
A
.gov website belongs to an official
government organization in the United States.
Secure .gov websites use HTTPS
A lock (
) or https:// means you've safely
connected to the .gov website. Share sensitive
information only on official, secure websites.
Sequencing confirming PAX6 frameshift mutation. Schematic of PAX6 gene shows the location of the NM_000280.4(PAX6):c.565TC>T frameshift mutation and its effect on the coding protein. The Sanger chromatogram traces show transmission of the mutation from father (III-11) to daughter (IV-6) in one branch of the family and absence of the mutation in the unaffected mother (III-10).
