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Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.
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]
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Cited by 2 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]