Associated Papers
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti A et al.
Human Mutation, 2021
34387910 (PubMed )
Supplement: HUMU-42-1384-s001.xlsx › TableS2_All_variants
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.
Sawamoto K et al.
International Journal of Molecular Sciences, 2020
In silico analysis of mutations occurring in the protein N-acetylgalactosamine-6-sulfatase (GALNS) and causing mucopolysaccharidosis IVA.
Tamarozzi ER et al.
Genetics and Molecular Research : Gmr, 2014
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Morrone A et al.
Human Mutation, 2014
25137622 (PubMed )
Supplement: humu0035-1271-sd1.pdf
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Rivera-Colón Y et al.
Journal of Molecular Biology, 2012
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
Sukegawa K et al.
Human Molecular Genetics, 2000
The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.
Montaño AM et al.
Biochimica Et Biophysica Acta, 2000
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Tomatsu S et al.
Human Mutation, 1997
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