Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

KATO Tomomi; KATO Zenichiro; KURATSUBO Izumi; TANAKA Noboru; ISHIGAMI Tabito; KAJIHARA Jun-ichi; SUKEGAWA-HAYASAKA Kazuko; ORII Koji; ISOGAI Koji; FUKAO Toshiyuki; SHIMOZAWA Nobuyuki; ORII Tadao; KONDO Naomi; SUZUKI Yasuyuki

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J-GLOBAL ID：200902285181552634 Reference number：05A0974554

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II

II型ムコ多糖沈着症日本人患者の突然変異および構造解析

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Material：
Volume： 50 Issue： 8 Page： 395-402 Publication year： 2005
JST Material Number： Z0756A ISSN： 1434-5161 Document type： Article
Article type：原著論文 Country of issue： United Kingdom (GBR) Language： ENGLISH (EN)

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Genetic variation

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BUNGE, S. Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet. 1993, 2, 1871-1875
CHUNG, BH. Spinal muscular atrophy : survival pattern and functional status. Pediatrics. 2004, 114, e548-e553
COLVIN, L. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child. 2003, 88, 38-43
FILOCAMO, M. Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II : new mutations in the iduronidase-2-sulfatase (IDS) gene. Hum Mutat. 2001, 18, 164-165

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