Conclusions: We describe a new missense mutation (A224 -G, Tyr75 -Cys) in the GCHl gene. Mutations in the coding region of the gene account for a part of patients with DRD.

• 2003届硕士研究生论文结论:我们描述了一个新的错义突变(T”75一Cys)，GcHI基因编码区突变能解释部分DRD患者的发病.