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

Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.

Human molecular genetics - 1 May 1993

Kleiman S, Li J, Schwartz G, Eisensmith R C, Woo S L, Shiloh Y

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 DNA
Share to DNA Mutational Analysis
Share to Ethnicity

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

Share to Molecular Sequence Data

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8518802
DOI: 10.1093/hmg/2.5.605

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

Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria.PMID 8518802Read ↗

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.Semantic proximity Read ↗

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

The molecular basis of phenylalanine hydroxylase deficiency in Croatia.Semantic proximity Read ↗

A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.Semantic proximity Read ↗

A novel TYRP1 mutation associated with brown coat color in Siberian huskies.Semantic proximity Read ↗

Multiple origins for phenylketonuria in Europe.Semantic proximity Read ↗

A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.Semantic proximity Read ↗

Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.Semantic proximity Read ↗

Spectrum of mutations in Lebanese patients with phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

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

Spectrum and origin of phenylketonuria mutations in Spain.Semantic proximity Read ↗

Phenylketonuria mutations and linked haplotypes in the Lithuanian population: origin of the most common R408W mutation.Semantic proximity Read ↗

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