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

Two mutations within the coding sequence of the phenylalanine hydroxylase gene.

Human genetics - 1 Aug 1990

Svensson E, Andersson B, Hagenfeldt L

Abstract excerpt

Two previously unidentified mutations at the phenylalanine hydroxylase locus were found during a study of the relationship between genotype and phenotype in phenylketonuria and hyperphenylalaninemia. One mutation eliminates the BamHI site in exon 7 and the other eliminates the HindIII site in exon 11 of the phenylalanine hydroxylase gene. They were suspected because of deviating restriction fragment patterns and...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence
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 Pedigree

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1975559
DOI: 10.1007/BF00206750

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

Two mutations within the coding sequence of the phenylalanine hydroxylase gene.PMID 1975559Read ↗

Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.Semantic proximity Read ↗

Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.Semantic proximity Read ↗

Two distinct mutations at a single BamHI site in phenylketonuria.Semantic proximity Read ↗

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

Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.Semantic proximity Read ↗

Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.Semantic proximity Read ↗

Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.Semantic proximity Read ↗

Phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

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

Analysis of exon 7 of the human phenylalanine hydroxylase gene: a mutation hot spot?Semantic proximity Read ↗

In vivo assessment of mutations in the phenylalanine hydroxylase gene by phenylalanine loading: characterization of seven common mutations.Semantic proximity Read ↗

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.Semantic proximity Read ↗

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