Associated Papers
Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience.
Yalcin K et al.
Bone Marrow Transplantation, 2025
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
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.
Tüysüz B et al.
Gene, 2019
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
Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
Khedhiri S et al.
Pathologie-biologie, 2014
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
Tomatsu S et al.
Human Mutation, 2005
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