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

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Human genetics - 1 Aug 1991

Konecki D S, Lichter-Konecki U

Abstract excerpt

The hyperphenylalaninemic disorders of classic phenylketonuria (PKU), mild phenylketonuria, and hyperphenylalaninemia (HPA), result from a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH) or its cofactor (tetrahydrobiopterin). Use of the complementary DNA of this enzyme has allowed the establishment of a restriction fragment length polymorphism (RFLP) haplotype-analysis system. This haplotype...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Chromosome Mapping
Share to PAH gene

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

Share to Genetics, Population

Share to Haplotypes

Share to Mutation

Share to Phenylketonurias

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 1679029
DOI: 10.1007/BF00197152

Genes

PAH

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

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.PMID 1679029Read ↗

Genetics of Phenylketonuria: Then and Now.Semantic proximity Read ↗

The Genetic Landscape and Epidemiology of Phenylketonuria.Semantic proximity Read ↗

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.Semantic proximity Read ↗

Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia.Semantic proximity Read ↗

The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.Semantic proximity Read ↗

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.Semantic proximity Read ↗

Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.Semantic proximity Read ↗

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.Semantic proximity Read ↗

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.Semantic proximity Read ↗

[Molecular genetic aspects of phenylketonuria (PKU)].Semantic proximity Read ↗

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.Semantic proximity Read ↗

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

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