The morquio A syndrome (mucopolysaccharidosis IVA)...[Am J Hum Genet. 1993]

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1: Am J Hum Genet. 1993 Jan;52(1):96-8. Links

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.

Baker E, Guo XH, Orsborn AM, Sutherland GR, Callen DF, Hopwood JJ, Morris CP.

Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.

The gene for N-acetylgalactosamine-6-sulfatase, the deficiency of which results in Morquio A syndrome (mucopolysaccharidosis type IVA), was assigned to chromosome 16 at band q24.3 by fluorescence in situ hybridization. Localization of this band was confirmed by PCR analysis of a somatic cell hybrid panel used for fine mapping of chromosome 16.

PMID: 8434612 [PubMed - indexed for MEDLINE]

PMCID: PMC1682100

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]
Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24. [Genomics. 1993]
Mucopolysaccharidosis IVA (Morquio A): three novel small deletions in the N-acetylgalactosamine-6-sulfate sulfatase gene. [Hum Mutat. 1996]
Review[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects] [Ann Biol Clin (Paris). 2007]
Review[Morquio syndrome, beta-galactosidase deficiency] [Ryoikibetsu Shokogun Shirizu. 2000]

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The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.

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