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The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.
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
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Cited by 3 PubMed Central articles
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Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.
Tomatsu S, Fukuda S, Yamagishi A, Cooper A, Wraith JF, Hori T, Kato Z, Yamada N, Isogai K, Sukegawa K, et al.
Am J Hum Genet. 1996 May; 58(5):950-62.
[Am J Hum Genet. 1996]
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Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K.
Am J Hum Genet. 1995 Sep; 57(3):556-63.
[Am J Hum Genet. 1995]
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Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase.
Bielicki J, Fuller M, Guo XH, Morris CP, Hopewood JJ, Anson DS.
Biochem J. 1995 Oct 1; 311 ( Pt 1):333-9.
[Biochem J. 1995]