Fig. 4.
Direct sequencing analysis of the coding region of CHST6. (A) DNA sequence of the patient. (B) DNA sequence of the patient's son. Sequence of the entire coding region of CHST6 revealed a change in the nucleotide at codon 205 (CGG→TGG). The same mutation was identified in the patient's son (p.Arg205Trp [c.613C>T]).
