Image
|
Figure Caption
Figure 1
(A) Genome analysis revealed a de novo variant in PDK1. Whole genome sequencing showed a c.1139G > A (p.G380D) variant in exon 11 of PDK1 (*) in heterozygosity (arrow). Sanger sequencing of the parents and the proband confirmed it was a de novo variant. (B) Partial amino acid sequence alignment including the amino acid affected by the variant (*) shows conservation between human and zebrafish.
Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and
ZFIN has permission only to display this image to its users.
Additional permissions should be obtained from the applicable author or publisher of the image.
Full text @ Biomedicines