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

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.

Journal of medical genetics - 1 Jul 2004

Tomatsu S, Nishioka T, Montaño A M, Gutierrez M A, Pena O S, Orii K O, Sly W S, Yamaguchi S, Orii T, Paschke E, Kircher S G, Noguchi A

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 CpG Islands
Share to DNA
Share to DNA Methylation
Share to DNA Mutational Analysis

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

Share to Genetic Testing

Share to Genome, Human

Share to Polymerase Chain Reaction

Share to Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 15235041
DOI: 10.1136/jmg.2003.018010
PMCID: PMC1735846

Genes

GALNS

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

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.PMID 15235041Read ↗

Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.Semantic proximity Read ↗

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.Semantic proximity Read ↗

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).Semantic proximity Read ↗

Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.Semantic proximity Read ↗

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.Semantic proximity Read ↗

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.Semantic proximity Read ↗

The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment.Semantic proximity Read ↗

Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian populationSemantic proximity Read ↗

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotypeSemantic proximity Read ↗

[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].Semantic proximity Read ↗

Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.Semantic proximity Read ↗

Mucopolysaccharidosis IV A: Assignment of the Human N-Acetylgalactosamine-6-Sulfate Sulfatase (GALNS) Gene to Chromosome 16q24Semantic proximity Read ↗

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