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.
Identification of a novel compound heterozygous mutation of NUP93. Patient’s pedigree. Red = Mutant alleles, WT = wild-type allele (a). Sequence chromatograms for exon 14 and exon 17 of NUP93 for the patient and her family (b). Protein alignment plot of the nucleoporin (NUP)93 amino acid (AA) sequence for residues 518–532 in exon 14 and 622–636 in exon 17 of NUP93 (c). R, Arg; L, Leu; R/W, Arg/Trp; N, Asn; K, Lys; Y/C, Tyr/Cys; D, Asp.
