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

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言語	英語
著者	Tomatsu S Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, MO, USA Nishioka T Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, MO, USA Montano AM Department of Biosystems Science, The Graduate University for Advanced Studies, Kanagawa, Japan Gutierrez MA Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, MO, USA Pena OS Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, MO, USA Orii KO E.A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO, USA Sly WS E.A. Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St. Louis, MO, USA Yamaguchi S Department of Pediatrics, Shimane University, Izumo, Japan Orii T Department of Pediatrics, Gifu University, Gifu, Japan Paschke E Laboratory of Metabolic Diseases, Department of Pediatrics, University of Graz, Austria Kircher SG Institute of Medical Chemistry, University of Vienna, Austria Noguchi A Department of Pediatrics, Saint Louis University, Pediatric Research Institute, St. Louis, MO, USA
掲載誌名	JOURNAL OF MEDICAL GENETICS
巻	41
号	7
ISSN	0022-2593
発行日	2004-07
DOI	10.1136/jmg.2003.018010
PubMed ID	15235041
出版者	B M J PUBLISHING GROUP
資料タイプ	学術雑誌論文
部局	医学部