Hunter syndrome (Mucopolysaccharidosis type II, MPS2) is an X-linked recessively inherited disease caused by a deficiency of iduronate 2 sulfatase (IDS). In this study, we investigated mutations of the IDS gene in 25 Korean Hunter syndrome patients. We identified 20 mutations, of which 13 mutations
Genetic Analysis of 17 Children with Hunter Syndrome: Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene
β Scribed by Chistiakov, Dimitry A.; Kuzenkova, Lyudmila M.; Savost'anov, Kirill V.; Gevorkyan, Anait K.; Pushkov, Alexander A.; Nikitin, Alexey G.; Vashakmadze, Nato D.; Zhurkova, Natalia V.; Podkletnova, Tatiana V.; Namazova-Baranova, Leila S.; Baranov, Alexander A.
- Book ID
- 125465429
- Publisher
- Elsevier
- Year
- 2014
- Tongue
- Chinese
- Weight
- 994 KB
- Volume
- 41
- Category
- Article
- ISSN
- 1673-8527
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