Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene
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| Published in: | Journal of medical genetics Vol. 41; no. 7; p. e98 |
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| Main Authors: | , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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England
BMJ Publishing Group Ltd
01-07-2004
BMJ Publishing Group LTD BMJ Group |
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| Author | Noguchi, A Orii, T Tomatsu, S Kircher, S G Orii, K O Gutierrez, M A Nishioka, T Paschke, E Yamaguchi, S Montaño, A M Pena, O S Sly, W S |
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| Author_xml | – sequence: 1 givenname: S surname: Tomatsu fullname: Tomatsu, S organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 2 givenname: T surname: Nishioka fullname: Nishioka, T organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 3 givenname: A M surname: Montaño fullname: Montaño, A M organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 4 givenname: M A surname: Gutierrez fullname: Gutierrez, M A organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 5 givenname: O S surname: Pena fullname: Pena, O S organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 6 givenname: K O surname: Orii fullname: Orii, K O organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 7 givenname: W S surname: Sly fullname: Sly, W S organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 8 givenname: S surname: Yamaguchi fullname: Yamaguchi, S organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 9 givenname: T surname: Orii fullname: Orii, T organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 10 givenname: E surname: Paschke fullname: Paschke, E organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 11 givenname: S G surname: Kircher fullname: Kircher, S G organization: Institute of Medical Chemistry, University of Vienna, Austria – sequence: 12 givenname: A surname: Noguchi fullname: Noguchi, A organization: Institute of Medical Chemistry, University of Vienna, Austria |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/15235041$$D View this record in MEDLINE/PubMed |
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| Copyright | Copyright 2004 Journal of Medical Genetics Copyright: 2004 Copyright 2004 Journal of Medical Genetics |
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| DOI | 10.1136/jmg.2003.018010 |
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| Notes | 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 |
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| SubjectTerms | 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 |
| Title | Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene |
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