Variant: rs1028668536 

    present in Gene: GALNS
    present in Chromosome: 16
    Position on Chromosome: 88841948
    Alleles of this Variant: G/A

rs1028668536 in GALNS gene and Dysmorphic features PMID 23385297 2013 Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management.

PMID 7741581 1995 The mucopolysaccharidoses: a clinical review and guide to management.

PMID 12728175 2003 Upper airways abnormalities and tracheal problems in Morquio's disease.

PMID 28428354 2017 Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.

PMID 25897204 2015 Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

PMID 23371450 2013 Diagnosing mucopolysaccharidosis IVA.

PMID 27774754 2017 Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 22358740 2013 Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

PMID 9189888 1997 MRI of the brain and craniocervical junction in Morquio's disease.

PMID 22543891 2012 Functional capacity evaluation of patients with mucopolysaccharidosis.

PMID 16539564 2006 Multidisciplinary treatment approach of Morquio syndrome (Mucopolysaccharidosis Type IVA).

PMID 21506915 2011 Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.

PMID 17347914 2007 International Morquio A Registry: clinical manifestation and natural course of Morquio A disease.

rs1028668536 in GALNS gene and Mucopolysaccharidosis, MPS-IV-A 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 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 1522213 1992 Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

PMID 9375852 1997 Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

PMID 7668283 1995 Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

PMID 7633425 1995 Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

PMID 8651279 1996 Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

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

PMID 16287098 2005 Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PMID 8826435 1996 Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

PMID 7581409 1995 Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

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