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Article

A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.

Movement disorders : official journal of the Movement Disorder Society - 30 Jul 2008

Farooq Muhammad U, Balmer Susan V, DeRoos Steven T, Houtman Karen L, Chillag Kipp L

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PMID: 18546295
DOI: 10.1002/mds.22145

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A novel mutation in the iduronate 2 sulfatase gene resulting in mucopolysaccharidosis type II and chorea: case report of two siblings.PMID 18546295Read ↗

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Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.Semantic proximity Read ↗

A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings.Semantic proximity Read ↗

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

Mucopolysaccharidosis type II (Hunter syndrome): characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts.Semantic proximity Read ↗

[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].Semantic proximity Read ↗

Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.Semantic proximity Read ↗

Mucopolysaccharidosis type II in females: case report and review of literature.Semantic proximity Read ↗

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.Semantic proximity Read ↗

Mucopolysaccharidosis type II: an update on mutation spectrum.Semantic proximity Read ↗

Gene symbol: IDS. Disease: Mucopolysaccharidosis II.Semantic proximity Read ↗

[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II].Semantic proximity Read ↗

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