Objective To investigate the point mutation features of exon 11 and 12 in phenylalanine hydroxylase (PAH) gene of the patients with phenylketonuria (PKU) in Xinjiang.

• 摘要目的分析新疆地区苯丙酮尿症(PKU)患者中苯丙氨酸羟化酶(PAH)基因第11、12外显子点突变。