mutation spectrum

The finding expands the phenotypic and mutation spectrum of the disease in Chinese people.

该研究扩展了该疾病在中国人群中的表现型与突变资料。

Objective To obtain the mutation spectrum of exon 12 of the phenylalanine hydroxylase ( PAH) gene.

目的了解中国人苯丙酮尿症（phenylketonuria，PKU）患者的苯丙氨酸羟化酶（Phenylalanine hydroxylase，PAH）基因第12外显子点突变种类和频率。

Objective To obtain the mutation spectrum of glucose-6-phosphatase ( G6Pase) gene in Chinese patients with glycogen storage disease type ⅰ a ( GSD ⅰ a) and to analyze the relationship of its genotype and phenotype.

目的了解中国人葡萄糖6磷酸酶（G6Pase）基因突变谱和突变热点，并分析糖原累积病Ⅰa型（GSDⅠa）基因型和临床表型的相关性。