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

Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco.

Genetic testing and molecular biomarkers - 1 Aug 2012

Lamzouri Afaf, Ratbi Ilham, Laarabi Fatima Z, Barkat Amina, Sefiani Abdelaziz

Abstract excerpt

OBJECTIVE: Frameshift mutation p.G352fsdelG in the PAH gene was recently reported as the most common mutation in Moroccan patients with phenylketonuria (PKU). This result, if confirmed, would considerably facilitate genetic counseling and molecular diagnosis of the disease in Morocco. Given that...

Read the complete abstract on PubMed

Topics

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

Share to PAH gene
Share to Heterozygote
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Morocco

Share to Mutation

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Source

Identifiers

PMID: 22808937
DOI: 10.1089/gtmb.2012.0011

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22808937-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco.PMID 22808937Read ↗

Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.Semantic proximity Read ↗

IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.Semantic proximity Read ↗

Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.Semantic proximity Read ↗

Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.Semantic proximity Read ↗

Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria.Semantic proximity Read ↗

[Advances in the diagnosis of phenylketonuria with the introduction of direct detection of PAH gene mutation].Semantic proximity Read ↗

Frequencies of phenylalanine hydroxylase mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil.Semantic proximity Read ↗

The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?Semantic proximity Read ↗

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.Semantic proximity Read ↗

Molecular Characterization of the IDUA Gene: Identification of a Haplotype associated with the p.P533R Mutation in the Maghreb PopulationSemantic proximity Read ↗

A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.Semantic proximity Read ↗

PKU in Minas Gerais State, Brazil: mutation analysis.Semantic proximity Read ↗

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