Article
A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.
Molecular vision - 11 Feb 2011
Prommajan Korrakot, Ausavarat Surasawadee, Srichomthong Chalurmpon, Puangsricharern Vilavun, Suphapeetiporn Kanya, Shotelersuk Vorasuk
Abstract excerpt
PURPOSE: To characterize the pathogenic mutations causing mucopolysaccharidosis type I (MPS I) in two Thai patients: one with Hurler syndrome (MPS IH), the most severe form, and the other with Scheie syndrome (MPS IS), the mildest. Both presented with distinctive phenotype including corneal clouding. METHODS: The entire coding regions of the α-L-iduronidase (IDUA) gene were amplified by PCR and sequenced....
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