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

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

Human mutation - 1 Jan 1997

Zekanowski C, Cabalska B, Borsuk P, Bal 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 Exons
Share to Mutation
Share to Phenylalanine
Share to Phenylalanine Hydroxylase

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

Share to Phenylketonurias

Source

Identifiers

PMID: 9298832
DOI: 10.1002/(SICI)1098-1004(1997)10:3<258::AID-HUMU17>3.0.CO;2-Z

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

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3.PMID 9298832Read ↗

Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.Semantic proximity Read ↗

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

Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.Semantic proximity Read ↗

Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.Semantic proximity Read ↗

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

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 ↗

R252W/E178G phenylalanine hydroxylase genotype in a Romanian non-PKU hyperphenylalaninaemic patient.Semantic proximity Read ↗

[Catalog of mutations of the phenylalanine hydroxylase gene].Semantic proximity Read ↗

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.Semantic proximity Read ↗

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.Semantic proximity Read ↗

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype.Semantic proximity Read ↗

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