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

Mutational landscape of phenylketonuria in Iran.

Journal of cellular and molecular medicine - 1 Sept 2023

Ajami Naser, Soleimani Anvar, Jafarzadeh-Esfehani Reza, Hasanpour Mojtaba, Rashid Shomali Romina, Abbaszadegan Mohammad Reza

Abstract excerpt

To date more than 1000 different variants in the PAH gene have been identified in patients with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the genetics bases of the PKU in different parts of the country. In this study, we have analysed and present an update of the mutational landscape of the PAH gene as well as the population genetics and frequencies of detected variants...

Read the complete abstract on PubMed

Topics

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

Share to Phenylalanine Hydroxylase
Share to Phenylketonurias

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

Share to DNA Mutational Analysis

Share to Gene Frequency

Share to Genotype

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 37525467
DOI: 10.1111/jcmm.17865
PMCID: PMC10468661

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

Mutational landscape of phenylketonuria in Iran.PMID 37525467Read ↗

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.Semantic proximity Read ↗

Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran.Semantic proximity Read ↗

Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran.Semantic proximity Read ↗

Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuriaSemantic proximity Read ↗

An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey.Semantic proximity Read ↗

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.Semantic proximity Read ↗

Mutation spectrum of phenylketonuria in Iranian population.Semantic proximity Read ↗

Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.Semantic proximity Read ↗

Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.Semantic proximity Read ↗

Genetic landscape of phenylketonuria in Brazil.Semantic proximity Read ↗

Mutation spectrum of the PAH gene in the PKU patients from Khorasan Razavi province of Iran.Semantic proximity Read ↗

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.Semantic proximity Read ↗

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