Rapid and definitive treatment of phenylketonuria in variant
2023年6月10日 · Using a CRISPR prime-edited hepatocyte cell line and a humanized PKU mouse model, we demonstrate efficient in vitro and in vivo correction of the P281L variant with …
Rapid detection of PAH gene mutations in Chinese people
2019年8月5日 · The established method of combing single-tube multiplex PCR with molecular hybridization technology can accurately and rapidly detect PAH gene mutations in Chinese …
苯丙酮尿症的临床实践指南 - 中华医学遗传学杂志
苯丙酮尿症 (phenylketonuria，PKU) (OMIM #261600)为常染色体隐性遗传氨基酸代谢病，是由苯丙氨酸羟化酶 (phenylalanine hydroxylase，PAH) (NP_000268.1)缺陷所致，男女患病率均等 …
苯丙酮尿症（PKU）的基因检测 - 知乎 - 知乎专栏
苯丙酮尿症（Phenylketonuria，PKU）是最常见的氨基酸代谢病之一，为常染色体隐性遗传。 是由于苯丙氨酸（Phe）代谢途径中苯丙氨酸羟化酶或其他辅酶缺陷，使得苯丙氨酸不能转变成 …
Accurate molecular diagnosis of phenylketonuria and …
Genetic diagnostics of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficient hyperphenylalaninemia (BH4DH) rely on methods that scan for known mutations or on …
A simple, rapid, and highly informative PCR-based procedure for ...
The polymorphic information content (PIC) and the degree of heterozygosity of several polymorphic systems within the phenylalanine hydroxylase (PAH) gene were determined in 85 …
SCREENING FOR PHENYLKETONURIA MUTATIONS BY DNA AMPLIFICATION …
1988年3月5日 · Oligonucleotides specific for these mutations can serve as molecular probes to detect PKU carriers in the general population.6,7 The polymerase chain reaction (PCR) …
PCR技术应用五：苯酶同尿症诊断 - 丁香通研选
2013年9月5日 · 经典型的苯丙酮尿 (Phenyketon uria简PKU)是由苯丙氨酸羟化酶 (PAH)的遗传性 缺陷引起的一种先天性代谢病，其发病早在我国以为1/10000左右，杂合子频率为 1/50. PKU …
Rapid mutation screening of phenylketonuria by polymerase chain ...
We describe a simple and technically feasible method for mutation screening of the phenylalanine hydroxylase (PAH) gene and its application to Japanese and Chinese patients with …
Molecular Analysis of PKU-Associated PAH Mutations: A Fast and …
Using minisequencing method, we have optimized the detection of the 24 probes (core panel plus control panel) of our test in four multiplex polymerase chain reactions (PCR) followed by four …