Condition: Mucopolysaccharidosis IV
rs1165218506 in
GALNS gene and
Mucopolysaccharidosis IV
PMID 15235041 2004 Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
PMID 23876334 2014 Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
PMID 10814710 2000 Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.
PMID 9521421 1998 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
PMID 9298823 1997 Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
PMID 9385378 1997 A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.
PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
PMID 25287660 2014 Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.
PMID 25433535 2014 Overcoming the barriers to diagnosis of Morquio A syndrome.
PMID 25501214 2014 In silico analysis of mutations occurring in the protein N-acetylgalactosamine-6-sulfatase (GALNS) and causing mucopolysaccharidosis IVA.
rs118204437 in
GALNS;LOC107987238 gene and
Mucopolysaccharidosis IV
PMID 8829629 1996 Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
PMID 9401012 1997 Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).