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
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
Caciotti A et al.
Bmc Medical Genetics, 2018
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