12例波兰黏多糖贮积症II型（亨特综合征）患者的艾杜糖醛酸-2-硫酸酯酶基因突变 - Suppr

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超能文献

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

作者信息

Popowska E, Rathmann M, Tylki-Szymanska A, Bunge S, Steglich C, Schwinger E, Gal A

机构信息

Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.

出版信息

Hum Mutat. 1995;5(1):97-100. doi: 10.1002/humu.1380050114.

DOI:10.1002/humu.1380050114

PMID:7728156

Abstract

摘要

相似文献

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).12例波兰黏多糖贮积症II型（亨特综合征）患者的艾杜糖醛酸-2-硫酸酯酶基因突变

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Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.II型黏多糖贮积症（亨特病）：日本患者艾杜糖醛酸-2-硫酸酯酶基因中8个点突变的鉴定与特征分析

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Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.II型黏多糖贮积症的分子基础：艾杜糖醛酸-2-硫酸酯酶基因突变

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Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).II型黏多糖贮积症（亨特综合征）患者艾杜糖醛酸-2-硫酸酯酶基因突变分析

Hum Mol Genet. 1992 Aug;1(5):335-9. doi: 10.1093/hmg/1.5.335.

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

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J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S303-11. doi: 10.1007/s10545-008-0876-z. Epub 2008 May 20.

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Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.五名患有亨特综合征的挪威人的艾杜糖醛酸-2-硫酸酯酶基因突变。

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Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.在Xq27.3 - q28区域功能性亨特综合征基因附近存在艾杜糖醛酸 - 硫酸酯酶假基因的证据。

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