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.
Results of sequencing DNA from the pedigree. (a) Sanger sequencing confirmed that patients inherited homozygous variant of c.1004T>A (p.Leu335*) in exon 9, from both parents. Red arrows, variant base. (b) Homology model shows effects of nonsense variant on NSUN2 protein. Green and blue, amino acid residues before and after Leu 335, respectively; red, Leu 335 residue.
