Article
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Feb 2006
Guo Yi-bin, Du Chuan-shu
Abstract excerpt
OBJECTIVE: Mutations of the iduronate-2-sulfatase (IDS) gene is the ultimate cause of Hunter syndrome. Clarification of the nature of mutations will create a necessary premise for prenatal gene diagnosis. A mucopolysaccharidosis (MPS) type II patient and his parents from an ethnic minority in Yunnan province were studied to identify their possible mutation in IDS gene to establish the basis for prenatal gene...
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