Identification of a Novel Mutation Splicing Site in Phenylalanine Hydroxylase Gene in Chinese
中国人苯丙氨酸羟化酶基因的一个新的切接位点突变的鉴定 Identification of a Novel Mutation Splicing Site inPhenylalanine Hydroxylase Gene in Chinese

A novel missense mutation at code 355 0f phenylalanine hydroxlase gene was identified, this mutation caused the substitution of Gln 355 for His 355 The mutant site was at the boundary of exon 10 and intro 11 and might cause splicing errors during RNA processing, Which could result in abnormal mRNA Identification of Q355H provided a theortic evidence for prenatal diagnosis of a fetus with PKU