Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2015

He Jiang, Wang Hui-Zhen, Xu Fa-Liang, Yang Xi, Wang Rui, Zou Hong-Yun, Yu Wu-Zhong

Abstract excerpt

OBJECTIVE: To study the mutation characteristics of the phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) from the Qinghai area of China, in order to provide basic information for genetic counseling and prenatal diagnosis. METHODS: Mutations of the PAH gene were detected in the promoter and exons 1-13 and their flanking intronic sequences of PAH gene by PCR and DNA sequencing in 49...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to PAH gene

Share to Infant

Share to Mutation

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Source

Identifiers

PMID: 26575882

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Mutation analysis of the PAH gene in children with phenylketonuria from the Qinghai area of China].PMID 26575882Read ↗

[Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang].Semantic proximity Read ↗

[Characteristics of phenylalanine hydroxylase gene mutations among patients with phenylketonuria from Linyi region of Shandong Province].Semantic proximity Read ↗

[Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].Semantic proximity Read ↗

[The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province].Semantic proximity Read ↗

[Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province].Semantic proximity Read ↗

[Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province].Semantic proximity Read ↗

[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].Semantic proximity Read ↗

[Study on the mutations of phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi province].Semantic proximity Read ↗

[Analysis for phenylalanine hydroxylase gene mutations in 35 ethnic Hui children from Ningxia with phenylketonuria].Semantic proximity Read ↗

[Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].Semantic proximity Read ↗

[Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].Semantic proximity Read ↗

[Mutations of the phenylalanine hydroxylase gene in phenylketonuria patients from Shaanxi].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.