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(a) Sequencing chromatograms showing the homozygous c.476A>G, p.(Gln159Arg) ECHS1 variant in Family 1 and the c.538A>G, p.(Thr180Ala) ECHS1 variant in Family 2. (b) Conservation studies support the evolutionary importance of the p.Gln159 and p.Thr180 residues. [Color figure can be viewed at http://wileyonlinelibrary.com]
