Variant: rs118204437 

    present in Gene: GALNS;LOC107987238
    present in Chromosome: 16
    Position on Chromosome: 88824853
    Alleles of this Variant: G/A

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).

rs118204437 in GALNS;LOC107987238 gene and Mucopolysaccharidosis, MPS-IV-A PMID 15309681 2004 Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

PMID 23227063 2012 Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.

PMID 24726177 2014 Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

PMID 26147980 2015 Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.

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 7795586 1995 Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

PMID 22976768 2013 Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.

PMID 25252036 2014 GALNS mutations in Indian patients with mucopolysaccharidosis IVA.