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
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
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.
Olarte-Avellaneda S et al.
Molecular Biology Reports, 2014
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Morrone A et al.
Molecular Genetics and Metabolism, 2014
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Rivera-Colón Y et al.
Journal of Molecular Biology, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
Laradi S et al.
Molecular Genetics and Metabolism, 2006
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Tomatsu S et al.
Human Mutation, 2005
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.
Kato Z et al.
Human Genetics, 1997
Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
Tomatsu S et al.
Human Mutation, 1997
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
Tomatsu S et al.
Molecular Genetics and Metabolism, 0
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