Fig. 2From: Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families a Pedigrees of the two families that generated linkage to THSD1 (index boxed in red). b Genome-wide linkage analysis showing a single significant peak (red arrow) that spans the THSD1 locus. c Cartoon of the THSD1 gene and protein with the location of the two identified mutations marked. The missense mutation replaces a highly conserved amino acid across speciesBack to article page