Figure 5. Direct sequencing analysis of the coding region of CHST6. A: Normal sequence at codon 298. B: Sequence of the coding region of CHST6 in the proband revealed a change of the nucleotide at codon 298 (CAG→TAG). C: Normal sequence at codon 358. D: Sequence of the coding region of CHST6 in the proband showed a substitution at codon 358 (TAC→CAC).