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Title: The molecular basis of mucopolysaccharidosis type I in two Thai patients
Authors: James R. Ketudat Cairns
Siriporn Keeratichamroen
Supattra Sukcharoen
Voraratt Champattanachai
Lukana Ngiwsara
Kriengsak Lirdprapamongkol
Somporn Liammongkolkul
Chantragan Srisomsap
Rudee Surarit
Pornswan Wasant
Jisnuson Svasti
Chulabhorn Research Institute
Suranaree University of Technology
Mahidol University
Keywords: Medicine
Issue Date: 1-Sep-2005
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. 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).
ISSN: 01251562
Appears in Collections:Scopus 2001-2005

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