Mucopolysaccharidosis IV A: assignment of the huma...[Genomics. 1993]

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1: Genomics. 1993 Jun;16(3):777-8. Links

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.

Masuno M, Tomatsu S, Nakashima Y, Hori T, Fukuda S, Masue M, Sukegawa K, Orii T.

Department of Pediatrics, Gifu University School of Medicine, Japan.

Plasmid clones of three independent genomic fragments of the gene for human N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4) were utilized in a fluorescence in situ suppression hybridization study to assign the locus to chromosome 16q24. Enzyme assay for GALNS in a patient with del(16)(q22.1) confirmed this finding.

PMID: 8325655 [PubMed - indexed for MEDLINE]

Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease. [Hum Mutat. 1996]
The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. [Am J Hum Genet. 1993]
Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. [Genomics. 1994]
ReviewMolecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. [Jpn J Hum Genet. 1997]
Review[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects] [Ann Biol Clin (Paris). 2007]

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Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.

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