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Article

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

Clinica chimica acta; international journal of clinical chemistry - 23 Oct 2015

Seyedhassani Seyed Mohammad, Hashemi-Gorji Feyzollah, Yavari Mahdieh, Mirfakhraie Reza

Abstract excerpt

Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A, is an autosomal recessive disorder characterized by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which causes major skeletal and connective tissue abnormalities and affects multiple organ systems. In this study, one MPS IVA patient with a severe form from consanguine large Iranian family has been investigated. To find a...

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Source

Identifiers

PMID: 26276046
DOI: 10.1016/j.cca.2015.08.006

Genes

GALNS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.PMID 26276046Read ↗

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 ↗

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

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

GALNS mutations in Indian patients with mucopolysaccharidosis IVA.Semantic proximity Read ↗

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations.Semantic proximity Read ↗

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.Semantic 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 ↗

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.Semantic proximity Read ↗

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