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
Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).
Peretz RH et al.
American Journal of Medical Genetics. Part A, 2020
Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.
Caciotti A et al.
Human Mutation, 2015
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