An 8-bp deletion in exon B of the iduronate-2-sulphate sulphatase gene in a case of Hunter disease.
作者信息
Goldenfum S, Malcolm S, Winchester B
机构信息
Unit of Enzymology, Institute of Child Health (University of London), UK.
出版信息
Hum Mol Genet. 1993 Jul;2(7):1063-5. doi: 10.1093/hmg/2.7.1063.
PMID:8364547
Abstract
摘要
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引用本文的文献
1
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
J Inherit Metab Dis. 1998 Feb;21(1):60-70. doi: 10.1023/a:1005363414792.
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