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Mutations on the HSD17B10 gene of patients with HSD10 deficiency. (A) Chromatogram of the forward sequence of HSD17B10 gene from patient SF showing c.419C>T transition. This mutation resulted in mutant HSD10(R130C). (B) Chromatogram of the forward sequence of the same gene from patient SV showing c.776G>C transversion. This mutation generated mutant HSD10(E249Q) with the substitution of glutamine for glutamate at residue 249 of HSD10.
