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

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.

Nucleic acids research - 1 Jan 1996

Hoang L, Byck S, Prevost L, Scriver C R

Abstract excerpt

The PAH Mutation Analysis Consortium (81 investigators, 26 countries) is engaged in mutation detection at the human PAH locus. Ascertainment of probands occurs largely through newborn screening for hyperphenylalaninemia. A relational database records allelic variation (disease-producing and polymorphic) at the locus. Information is distributed by Newsletter, diskette (WINPAHDB software stand-alone executable on...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Chromosome Mapping
Share to Databases, Factual

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

Share to DNA Mutational Analysis

Share to PAH gene

Share to Genetic Variation

Share to Phenylalanine Hydroxylase

Share to Terminology as Topic

Source

Open in PubMed Open full text

Identifiers

PMID: 8594560
DOI: 10.1093/nar/24.1.127
PMCID: PMC145593

Genes

PAH

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

PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus.PMID 8594560Read ↗

The PAH mutation analysis consortium database: update 1996.Semantic proximity Read ↗

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.Semantic proximity Read ↗

PAHdb: a locus-specific knowledgebase.Semantic proximity Read ↗

PAHdb 2003: what a locus-specific knowledgebase can do.Semantic proximity Read ↗

The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.Semantic proximity Read ↗

Analysis of PAH Genetic Variation and Phenotypic Diversity in the PAHvdb.Semantic proximity Read ↗

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.Semantic proximity Read ↗

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.Semantic proximity Read ↗

Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.Semantic proximity Read ↗

[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version].Semantic proximity Read ↗

DNA sequence polymorphisms in exonic and intronic regions of the human phenylalanine hydroxylase gene aid in the identification of alleles.Semantic proximity Read ↗

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.Semantic proximity Read ↗

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