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- Phenylketonuria(PKU) is one kinds of autusomal recessive disease caused by phenylalanine hydroxylase(PAH) gene mutation. 苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。
- Abstract: Phenylketonria (PKU ) is one kind of autosomal recessive disease caused by phenylalanine hydroxylase(PAH ) gene mutation. 苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。
- Abstract: Phenylketonuria(PKU) is one kinds of autusomal recessive disease caused by phenylalanine hydroxylase(PAH) gene mutation. 苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病。
- 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. 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。
- 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。
- Objective:To study the mutations of the phenylalanine hydroxylase(PAH)gene and enhance the gene diagnosis of classical phenylketonuria(PKU) in Inner Mongolia. 目的:研究内蒙古地区经典型苯丙酮尿症(PKU)苯丙氨酸羟化酶(PAH)基因突变的特点和频率,以提高该地区PKU的基因诊断率。
- Objective To establish a method with high efficiency in detecting phenylalanine hydroxylase(PAH) gene mutations and hence to rapidly diagnose prenatal fetals with phenylketonuria. 目的提高苯丙氨酸羟化酶基因突变的检出效率,快速对苯丙酮尿症患儿进行产前诊断。
- An A/C polymorphism was identified at nucleotide-11 from the acceptor site of IVS3 of the phenylalanine hydroxylase gene. This polymorphism can be detected easily by means of single strand conformation polymorphism analysis. 在苯丙氨酸羟化酶基因IVS3的3'端-11位有一个A/C多态性位点,应用SSCP分析可进行简便检测。
- Aim:To set up a method of prenatal diagnosis of classic phenylketonuria ( PKU) by linkage analysis of the short tandem repeat(STR) in intron 3 linked to the phenylalanine hydroxylase (PAH) gene. 目的:建立一种利用苯丙氨酸羟化酶(PAH)基因内含子3中短串联重复序列(STR)多态性连锁分析进行经典型苯丙酮尿症(PKU)产前诊断的方法。
- BH4 responsive phenylalanine hydroxylase deficiency BH4反应性苯丙氨酸羟化酶缺乏症
- phenylalanine hydroxylase deficiency 苯丙氨酸羟化酶缺乏症, 苯丙酮尿症, 苯丙氨酸羟化酶缺乏
- Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria 经典型苯丙酮尿症苯丙氨酸羟化酶基因的新突变鉴定
- Clinical and gene detection of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency 四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症的临床和基因检测
- Clinical and genetic analysis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency 四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症的临床与基因研究
- Effect of peroxovanadate-nicotinic acid on phenylalanine hydroxylase activity in diabetic rats 过氧钒烟酸对糖尿病鼠苯丙氨酸羟化酶活性的影响
- Keywords phenylketonuria;phenylalanine hydroxylase;clone;prokaryotic expression plasmid; 苯丙酮尿症;苯丙氨酸羟化酶;克隆;原核表达质粒;
- Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test 四氢生物蝶呤负荷试验诊断四氢生物蝶呤反应性苯丙氨酸羟化酶缺乏症的临床研究
- Application of Capillary Non-gel Sieving Electrophoresis to the Analysis of Short Tandem Repeat in Phenylalanine Hydroxylase Gene and Gene Diagnosis of Phenylketonuria 毛细管无胶筛分电泳在苯丙氨酸羟化酶基因短串联重复序列分析及苯丙酮尿症基因诊断中的应用
- phenylalanine hydroxylase gene 苯丙氨酸羟化酶基因
- phenylalanine hydroxylase 苯丙氨酸羟化酶