Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene

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Bibliographic Details
Published in:	Journal of medical genetics Vol. 41; no. 7; p. e98
Main Authors:	Tomatsu, S, Nishioka, T, Montaño, A M, Gutierrez, M A, Pena, O S, Orii, K O, Sly, W S, Yamaguchi, S, Orii, T, Paschke, E, Kircher, S G, Noguchi, A
Format:	Journal Article
Language:	English
Published:	England BMJ Publishing Group Ltd 01-07-2004 BMJ Publishing Group LTD BMJ Group
Subjects:	Adolescent C6S Child chondroitin-6-sulfate Chondroitinsulfatases - genetics CpG dinucleotide CpG Islands - genetics Disease DNA - chemistry DNA - genetics DNA Methylation DNA Mutational Analysis - methods Enzymes Female GAGs GALNS Genes Genetic Testing - methods Genome, Human glycosaminoglycans Humans keratan sulfate Male methylation Mucopolysaccharidoses - diagnosis Mucopolysaccharidoses - enzymology Mucopolysaccharidoses - genetics mucopolysaccharidosis IVA Mutation Mutation - genetics N-acetylgalactosamine-6-sulfate sulfatase Online Mutation Report Phenotype Polymerase Chain Reaction - methods Polymorphism, Single-Stranded Conformational recurrent mutation single-strand conformation polymorphism SSCP Surgery Urine
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Bibliography:	ark:/67375/NVC-GK6L6FKC-1 Correspondence to:  S Tomatsu  Department of Pediatrics, Saint Louis University, Pediatric Research Institute, 3662 Park Ave, St. Louis, MO 63110-2586, USA; tomatsus@slu.edu istex:0438AA288144FB685329F14FAB84D9508695DECB local:0410e98 href:jmedgenet-41-e98.pdf PMID:15235041 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.2003.018010