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Article

Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.

Journal of human genetics - 1 Jan 2005

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

Abstract excerpt

We investigated mutations of the iduronate-2-sulfatase (I2S) gene and structural characteristics of I2S to clarify genotype/phenotype relationships in 18 Japanese patients with mucopolysaccharidosis type II. The I2S gene was analyzed in five patients with a severe phenotype and in 13 patients with an attenuated phenotype. The tertiary structural model of the human I2S was constructed by homology modeling using...

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PMID: 16133661
DOI: 10.1007/s10038-005-0266-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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