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

Novel mutation in exon 7 of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.

Clinical chemistry - 1 Nov 1993

Takarada Y, Yamashita K, Ohtsuka N, Kagawa S, Matsuoka A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to China
Share to DNA
Share to Exons

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

Share to Molecular Sequence Data

Share to Mutation

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Source

Identifiers

PMID: 8222247

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

Novel mutation in exon 7 of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.PMID 8222247Read ↗

Novel homozygous mutation of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.Semantic proximity Read ↗

A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.Semantic proximity Read ↗

[Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].Semantic proximity Read ↗

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity.Semantic proximity Read ↗

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

[Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].Semantic proximity Read ↗

[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria].Semantic proximity Read ↗

A new single base substitution in a Japanese phenylketonuria (PKU) patient.Semantic proximity Read ↗

[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].Semantic proximity Read ↗

Phenylketonuria mutations in southern Chinese detected by denaturing gradient gel electrophoresis in exon 7 of PAH gene.Semantic proximity Read ↗

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.Semantic proximity Read ↗

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3.Semantic proximity Read ↗

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