Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan

Figure 3

Variants chromatograph for the identified variants in the HGD gene. (a) Pathogenic variant in exon 6 of the HGD gene; c.365C>T, p. Ala122Val. (b) Benign variant in exon 4 of the HGD gene; c.240A>T, p. Gln80His.

(a)

(b)