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

Mutation spectrum of phenylketonuria in Iranian population.

Molecular genetics and metabolism - 1 Jan 2011

Zare-Karizi Sh, Hosseini-Mazinani S M, Khazaei-Koohpar Z, Seifati S M, Shahsavan-Behboodi B, Akbari M T, Koochmeshgi J

Abstract excerpt

Identification of molecular basis of phenylketonuria (PKU) in Iran has been accomplished through the analysis of 248 unrelated chromosomes from 124 Iranian classic PKU subjects. Phenylalanine hydroxylase (PAH) gene mutations were analyzed through a combined approach in which p.S67P, p.R252W, p.R261Q, p.R261X, p.L333F, IVS10-11G>A, IVS11+1G>C, p.L364del, p.R408Q and p.R408W mutations were first screened by PCR of...

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 Heterozygote
Share to Homozygote

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

Share to Mutation

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 20920871
DOI: 10.1016/j.ymgme.2010.09.001

Genes

PAH

Variants

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

Mutation spectrum of phenylketonuria in Iranian population.PMID 20920871Read ↗

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

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

Mutational landscape of phenylketonuria in Iran.Semantic proximity Read ↗

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

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

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

Phenylketonuria mutations in Europe.Semantic proximity Read ↗

Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.Semantic proximity Read ↗

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

A preliminary mutation analysis of phenylketonuria in southwest Iran.Semantic proximity Read ↗

Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.Semantic proximity Read ↗

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