Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.

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作者信息

Li P, Huffman P, Thompson J N

机构信息

Laboratory of Medical Genetics, University of Alabama at Birmingham 35294, USA.

出版信息

Hum Mutat. 1995;5(3):272-4. doi: 10.1002/humu.1380050314.

DOI:10.1002/humu.1380050314

PMID:7599640

Abstract

摘要

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Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.

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DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.局限于艾杜糖醛酸-2-硫酸酯酶启动子的DNA缺失消除了IDS基因的表达。

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Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.干血斑可用于针对性筛查，以诊断黏多糖贮积症和黏脂贮积症。

JIMD Rep. 2015;15:123-32. doi: 10.1007/8904_2014_308. Epub 2014 May 6.

A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease.艾杜糖醛酸-2-硫酸酯酶基因中的一种新的多态性。对亨特氏病诊断的意义。

J Inherit Metab Dis. 1999 Oct;22(7):844. doi: 10.1023/a:1005570410851.

J Med Genet. 1999 Jan;36(1):21-7.

Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.II型黏多糖贮积症（亨特综合征）：艾杜糖醛酸-2-硫酸酯酶基因中的突变“热点”

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