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

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.

Source

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

Abstract

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]

Publication Types, MeSH Terms, Substances

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

Chondroitinsulfatases

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Full Text Sources

Medical

GALNS Gene - Genetics Home Reference

Miscellaneous

Mouse Genome Informatics (MGI)

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Related citations in PubMed

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 IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
Fukuda S, Tomatsu S, Masuno M, Ogawa T, Yamagishi A, Rezvi GM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, et al. Hum Mutat. 1996; 7(2):123-34.
The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. [Am J Hum Genet. 1993]
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. Am J Hum Genet. 1993 Jan; 52(1):96-8.
Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. [Genomics. 1994]
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Morris CP, Guo XH, Apostolou S, Hopwood JJ, Scott HS. Genomics. 1994 Aug; 22(3):652-4.
Review [Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects]. [Ann Biol Clin (Paris). 2007]
Review [Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects].
Bouzidi H, Khedhiri S, Laradi S, Ferchichi S, Daudon M, Miled A. Ann Biol Clin (Paris). 2007 Jan-Feb; 65(1):5-11.
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Cited by 2 PubMed Central articles

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency. [Am J Hum Genet. 1996]
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.
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene. [Am J Hum Genet. 1995]
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.

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