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. 2015 Oct 21;24(7):1001–1008. doi: 10.1038/ejhg.2015.227

Figure 1.

Figure 1

(a) Four generation pedigree of the consanguineous family with three siblings affected with WS. (b) Sequencing fluorograms showing the alanine to serine variant of GUF1 codon 609 (black arrow) in the heterozygote and homozygote state in the two parents and their affected siblings, respectively. Codon translation is indicated at the bottom.