Associated Papers
Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants.
Wahhab SBA et al.
Molecular Genetics and Metabolism Reports, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2
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
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
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Bidchol AM et al.
American Journal of Medical Genetics. Part A, 2014
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Pollard LM et al.
Journal of Inherited Metabolic Disease, 2013
Select a paper to view details