苯丙氨酸羟化酶

PCR-ASO技术对苯丙氨酸羟化酶基因外显子突变的分析

The Analysis of Mutations of PAH Gene by PCR-ASO Technique

苯丙氨酸羟化酶基因内点突变的检测与分析

Identification of PAH gene point mutation in patients with PKU

抗苯丙氨酸羟化酶单克隆抗体的提纯和轻、重链的N端顺序

Purification of an Anti-Phenylalanine Hydroxylase Monoclonal Antibody and its NH_2 - Terminal Sequence for the Light-Chain and Heavy-Chain

应用PCR-SSCP分析技术检测苯丙氨酸羟化酶基因突变和多态

Mutation and polymorphism of the phenylalanine hydroxylase gene detected by PCR-SSCP analysis

目的检测中国苯丙酮尿症（phenylketonuria，PKU）患者苯丙氨酸羟化酶（Phenylalaninehydroxylase，PAH）基因新的突变位点。

Objective To explore new mutation in phenylalanine hydroxylase ( PAH ) gene .

苯丙氨酸羟化酶（PAH）基因外显子7及其两侧内含子的突变研究

Mutations in Exon 7 of the Phenylalanine Hydroxylase ( PAH ) Gene in Chinese Patients with Phenylketonuria

云南苯丙氨酸羟化酶基因内（TCTA）n多态性及其在苯丙酮尿症诊断中的应用

Application of ( TCTA ) n polymorphism in PAH gene in PKU prenatal diagnosis in Yunnan

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

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

目的：检测中国北方人中苯丙酮尿症（PKU）患者苯丙氨酸羟化酶（PAH）基因外显子6，12中的突变。

Objective : This study was to detect the mutation in exon 6 and 12 of PHA gene in Northern Chinese .

苯丙氨酸羟化酶（PAH）广泛分布于动物、植物和微生物。

Phenylalanine hydroxylases ( PAH ) exist widely in animals , plants and microorganism , is a key and rate-limiting enzyme in Phe metabolism .

目的研究中国人苯丙氨酸羟化酶（PAH）基因突变的分子基础。

Objective To study the molecular basis of the phenylalanine hydroxylase ( PAH ) gene mutation in Chinese patients with phenylketonuria ( PKU ) .

利用FPLC提纯抗苯丙氨酸羟化酶抗体的Fab及其轻链和重链的分离

Preparation of the Fab Fragment of an Anti-Phenylalanine Hydroxylase Antibody and Separation of Light Chain and Heavy Chain From the Fab Only Using FPLC

目的探讨四氢生物蝶呤反应性苯丙氨酸羟化酶（PAH）缺乏症这一新的临床变异型在高苯丙氨酸血症（HPA）中的发生率，并进一步了解其PAH基因突变类型。

Objective To get the incidence of tetrahydrobiopterin ( BH_ 4 ) - responsive phenylalanine hydroxylase deficiency among HPAs , and to find the mutations of PAH in these patients .

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 study the mutations of the phenylalanine hydroxylase ( PAH ) gene and enhance the gene diagnosis of classical phenylketonuria ( PKU ) in Inner Mongolia .

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 .

采用苯丙氨酸羟化酶基因内短串联重复序列扩增片段长度多态性连锁分析法，对22个苯丙酮尿症（PKU）家系进行了分析。

The short tandem repeats ( STR ) in intron 3 of phenylalanine hydroxylase gene were analyzed in 22 phenylketonuria ( PKU ) families by linkage analysis of amplified-fragment length polymorphism .

目的：探讨天津地区苯丙氨酸羟化酶基因V245V突变特点。

To investigate the characteristic of V245V mutation of human phenylalanine hydroxylase gene in Tianjin area .

应用PCR结合银染显色法分析了苯丙氨酸羟化酶基因内含子3中1个四核苷酸（TCTA）重复序列的多态性。

A polymorphic tetranucleotide short tandem repeat ( STR ) sequence in intron 3 of the phenylalanine hydroxylase ( PAH ) gene was analysed in 52 normal individuals and 23 Phenylketonuria ( PKU ) families by PCR amplification and silver staining .

本研究将探讨BH4和苯丙氨酸羟化酶（PAH）基因突变在对BH4有反应的轻度PKU和轻度高苯丙酸血症（HPA）患者中的作用。

This study aimed to investigate the effect of BH4 and phenylalanine hydroxylase ( PAH ) gene mutations in patients with BH4 responsive mild PKU and mild hyperphenylalaninemia ( HPA ) . Compared with W. Mainly discusses the architecture and principle of the .

经典型苯丙酮尿症苯丙氨酸羟化酶基因的新突变鉴定

Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria

中国北方人苯丙氨酸羟化酶基因外显子7内新突变的鉴定

Novel Mutations Identified in Exon 7 of Phenylalanine Hydroxylase Gene in Chinese

苯丙氨酸羟化酶基因新突变位点与临床的关系

The correlation of genotypes and phenotypes for two novel mutations in phenylalanine

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

Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test

检测苯丙氨酸羟化酶基因内短串联重复顺序进行苯丙酮尿症产前诊断

Prenatal Diagnosis of Phenylketonuria by Detecting Short Tandem Repeats in Phenylalanine Hydroxylase Gene

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 in Phenylalanine Hydroxylase Gene in Chinese

苯丙氨酸羟化酶基因的六种新型突变

Six novel mutations in PAH gene detected by sequencing

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 gene detection of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

苯丙氨酸羟化酶基因突变分析及与临床严重度相关性的研究

Study of phenylalanine hydroxylase gene mutations and correlation between phenylketonuria clinical severity and genotype

苯丙氨酸羟化酶基因部分外显子突变研究

Study on Mutations of Phenylalanine Hydroxylase Gene

苯丙氨酸羟化酶基因内短串联重复序列多态性应用分析

Application of Short Tandem Repeats in Intron 3 of Phenylalanine Hydroxylase Gene for PKU Families