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Article

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

Journal of human genetics - 1 Jan 2004

Tomatsu Shunji, Dieter Tatiana, Schwartz Ida V, Sarmient Piedad, Giugliani Roberto, Barrera Luis A, Guelbert Norberto, Kremer Raquel, Repetto Gabriela M, Gutierrez Monica A, Nishioka Tatsuo, Serrato Olga Peña, Montaño Adriana Maria, Yamaguchi Seiji, Noguchi Akihiko

Abstract excerpt

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS was performed by genomic PCR and direct sequence analyses in 20 MPS IVA patients from Latin America. In this study, 12 different gene mutations including nine unreported ones were identified in 16 severe and four attenuated patients and...

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Source

Identifiers

PMID: 15309681
DOI: 10.1007/s10038-004-0178-8

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.

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Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.PMID 15309681Read ↗

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.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 ↗

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with 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 ↗

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

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

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