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

Presence of the Mediterranean PKU mutation IVS10 in Latin America.

Human molecular genetics - 1 Aug 1993

Pérez B, Desviat L R, Díe M, Cornejo V, Chamoles N A, Nicolini H, Ugarte M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Argentina
Share to Chile
Share to Ethnicity
Share to Europe

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

Share to Mexico

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Source

Identifiers

PMID: 8401510
DOI: 10.1093/hmg/2.8.1289

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

Presence of the Mediterranean PKU mutation IVS10 in Latin America.PMID 8401510Read ↗

Haplotype distribution and molecular defects of PKU in Italy.Semantic proximity Read ↗

Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.Semantic proximity Read ↗

Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34.Semantic proximity Read ↗

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: prevalence of A403V, a mutation with high residual activity.Semantic proximity Read ↗

Genotype-phenotype correlation in 11 Romanian PKU families.Semantic proximity Read ↗

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families.Semantic proximity Read ↗

Spectrum and origin of phenylketonuria mutations in Spain.Semantic proximity Read ↗

The long walk toward the PKD1 gene. The European PKD1 Consortium.Semantic proximity Read ↗

Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli.Semantic proximity Read ↗

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.Semantic proximity Read ↗

Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population.Semantic proximity Read ↗

Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.Semantic proximity Read ↗

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