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 › TabS4_GenotypesLiterature
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.
Tapiero-Rodriguez SM et al.
The Application of Clinical Genetics, 2018
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
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Dũng VC et al.
Molecular Genetics and Metabolism, 0
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