机译:中国中部地区苯丙酮尿中苯丙氨酸羟化酶基因的突变谱
Zhengzhou Univ Affiliated Hosp 3 Zhengzhou Henan Peoples R China;
Zhengzhou Univ Affiliated Hosp 3 Zhengzhou Henan Peoples R China;
Zhengzhou Univ Affiliated Hosp 3 Zhengzhou Henan Peoples R China;
Xinxiang Med Univ Sch Lab Med Xinxiang Peoples R China;
Zhengzhou Univ Affiliated Hosp 3 Zhengzhou Henan Peoples R China;
Henan Prov Peoples Hosp Dept Obstet Zhengzhou Henan Peoples R China;
Zhengzhou Univ Affiliated Hosp 3 Zhengzhou Henan Peoples R China;
Zhengzhou Univ Affiliated Hosp 3 Zhengzhou Henan Peoples R China;
Zhengzhou Univ Affiliated Hosp 3 Zhengzhou Henan Peoples R China;
Phenylketonuria (PKU); phenylalanine hydroxylase (PAH); gene mutation frequency; mutational spectrum; PAH deficiency; genotypes; novel variants; tetrahydrobiopterin (BH4); Sanger sequencing; next generation sequencing;
机译:中国中部地区苯丙酮尿中苯丙氨酸羟化酶基因的突变谱
机译:新西伯利亚地区苯丙酮尿症患者的苯丙氨酸羟化酶基因突变谱及检测方法
机译:从Novibirsk地区苯丙酮尿患者苯丙氨酸羟化酶基因检测的突变和方法的光谱
机译:新加坡巴鲁达综合征患者SCN5A基因突变的谱
机译:引起苯丙酮尿症的苯丙氨酸羟化酶突变体的表征。
机译:山西省苯丙酮尿症患者苯丙氨酸羟化酶基因突变
机译:哺乳动物苯丙氨酸羟化酶系统的遗传学。人类肝脏苯丙氨酸羟化酶亚基结构和苯丙酮尿症突变研究。