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.
Sanger sequencing analysis of POR in the patient and his parents. The arrows indicated the mutated nucleotides. The patient carries a compound heterozygous nonsense mutation (p.R223*) and a missense mutation (p.R457H) in POR. p.R223* was inherited from patient's heterozygous father and p.R457H was inherited from patient's heterozygous mother.
