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. 2023 Jan 31;18:20. doi: 10.1186/s13023-023-02619-3

Fig. 2.

Fig. 2

The development of a nonhuman primate model of Krabbe disease. A Among other pathogenic mutations, a deletion in humans eliminates the 3’ region of GALC, in rhesus macaques a 2 base pair deletion in exon 4 creates a frameshift and truncated protein in much the same manner. Wild-type initiation and termination positions are shown to the left of the exon model while causative mutations resulting in truncated transcripts are shown to the right. B A pedigree focused on the initial affected individuals (solid gray) identified carriers (half-gray) of the causative genetic mutation. Figure created with BioRender.com