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Article

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Human genetics - 1 Jul 2003

Montaño Adriana Maria, Kaitila Ilkka, Sukegawa Kazuko, Tomatsu Shunji, Kato Zenichiro, Nakamura Haruki, Fukuda Seiji, Orii Tadao, Kondo Naomi

Abstract excerpt

Mucopolysaccharidosis IVA (MPS IVA) is caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase encoded by the GALNS gene on chromosome 16. We describe, in detail, the clinical phenotype of five patients from three unrelated Finnish families and have characterized the disease-causing mutations in GALNS. Genotypes of the patients are D60N/A291T, D60N/W230X, and D60N/1374delT....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12721840
DOI: 10.1007/s00439-003-0959-8

Genes

GALNS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.PMID 12721840Read ↗

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