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.
EBP whole exome analysis of the aborted tissue indicated a heterozygous EBP mutation, a known causative mutation; c.440G>A [p.Arg147His]) in the priori (fetus). A Sanger test showed that the patient's parents are non-carriers, indicating that the mutation is de novo. EBP = emopamil binding protein.
