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.
a Amino acid sequence alignment of DHCR7 orthologs (AAH00054.1: human, AFI36411.1: rhesus, XP 540796.2: dog, CAJ18485.1: mouse, NP 958487.1: zebrafish). The affected tyrosine is underlined. The 2 closest known sites affected by pathogenic missense mutations are in bold. b The lack of the allele harboring p.Trp151* in cDNA analysis suggests the presence of NMD. Upper panel: cDNA, lower panel: gDNA.
