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|Title:||The molecular basis of mucopolysaccharidosis type I in two Thai patients|
|Authors:||James R. Ketudat Cairns|
Chulabhorn Research Institute
Suranaree University of Technology
|Citation:||Southeast Asian Journal of Tropical Medicine and Public Health. Vol.36, No.5 (2005), 1308-1312|
|Abstract:||Two Thai patients diagnosed with Hurler syndrome (mucopolysaccharidosis type 1, MPS I) were found to have no detectable α-iduronidase (E.C. 18.104.22.168) activity in leukocytes, while normal Thai children all had significant activity, with a mean of 135 ± 30 nmol/mg/18h. One patient was heterozygous for A75T (311G>A) and S633L (1986C>T) mutation, previously reported to cause MPS I, together with 9 other heterozygous polymorphisms also found in normal controls. The other patient had the previously described frameshift mutation 252insert C and a new nonsense mutation E299X (983G>T).|
|Appears in Collections:||Scopus 2001-2005|
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