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

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.

The FEBS journal - 1 Apr 2009

Daniele Aurora, Scala Iris, Cardillo Giuseppe, Pennino Cinzia, Ungaro Carla, Sibilio Michelina, Parenti Giancarlo, Esposito Luciana, Zagari Adriana, Andria Generoso, Salvatore Francesco

Abstract excerpt

Hyperphenylalaninemia (Online Mendelian Inheritance in Man database: 261600) is an autosomal recessive disorder mainly due to mutations in the gene for phenylalanine hydroxylase; the most severe form of hyperphenylalaninemia is classic phenylketonuria. We sequenced the entire gene for phenylalanine hydroxylase in 51 unrelated hyperphenylalaninemia patients from Southern Italy. The entire locus was genotyped in 46...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Child

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

Share to Child, Preschool

Share to Models, Molecular

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Protein Conformation

Source

Identifiers

PMID: 19292873
DOI: 10.1111/j.1742-4658.2009.06940.x

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

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.PMID 19292873Read ↗

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

Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.Semantic proximity Read ↗

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western RomaniaSemantic proximity Read ↗

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.Semantic proximity Read ↗

Molecular genetics and diagnosis of phenylketonuria: state of the art.Semantic proximity Read ↗

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

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.Semantic proximity Read ↗

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.Semantic proximity Read ↗

Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.Semantic proximity Read ↗

The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.Semantic proximity Read ↗

Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.Semantic proximity Read ↗

Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.Semantic proximity Read ↗

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