Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome

• المؤلفون الرئيسيون: S. Keeratichamroen, J. R Ketudat Cairns, D. Wattanasirichaigoon, P. Wasant, L. Ngiwsara, P. Suwannarat, S. Pangkanon, J. Kuptanon, P. Tanpaiboon, T. Rujirawat, S. Liammongkolkul, J. Svasti
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Biochemistry, Genetics and Molecular Biology; Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84855585793&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/60211

Molecular defects in the gene encoding the enzyme iduronate-2-sulfatase (IDS) result in Hunter disease (mucopolysaccharidosis type II, MPS II). To determine the molecular basis of MPS II in Thailand, the IDS gene was analysed in 20 Thai patients with Hunter syndrome from 18 unrelated families. A tot...