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

Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.

Human mutation - 1 Jan 1998

Park Y S, Seoung C S, Lee S W, Oh K H, Lee D H, Yim J

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 Codon, Terminator
Share to Amino Acid Substitution
Share to DNA
Share to Heterozygote

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

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Point Mutation

Source

Identifiers

PMID: 9452061
DOI: 10.1002/humu.1380110140

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.PMID 9452061Read ↗

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

The molecular basis of phenylketonuria in Koreans.Semantic proximity Read ↗

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.Semantic proximity Read ↗

Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.Semantic proximity Read ↗

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.Semantic proximity Read ↗

Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34.Semantic proximity Read ↗

Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C).Semantic proximity Read ↗

Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation.Semantic proximity Read ↗

Molecular genetics and diagnosis of phenylketonuria: state of the art.Semantic proximity Read ↗

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

A preliminary mutation analysis of phenylketonuria in southwest Iran.Semantic proximity Read ↗

Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings.Semantic proximity Read ↗

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