Associated Papers
Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer.
Flores-López BA et al.
Current Issues in Molecular Biology, 2022
36005154 (PubMed )
Supplement: cimb-44-00258-s001.zip › File_S1-variant_description-Flores-Lo_pez_BA.pdf
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 › TabS6_HomozygotesAnalysis
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
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Morrone A et al.
Molecular Genetics and Metabolism, 2014
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