Article
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Annals of human genetics - 1 May 2018
Ngiwsara Lukana, Ketudat-Cairns James R, Sawangareetrakul Phannee, Charoenwattanasatien Ratana, Champattanachai Voraratt, Kuptanon Chulaluck, Pangkanon Suthipong, Tim-Aroon Thipwimol, Wattanasirichaigoon Duangrurdee, Svasti Jisnuson
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a rare autosomal-recessive disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal enzyme encoded by the IDUA gene. Herein, we characterized IDUA mutations underlying mucopolysaccharidosis type I intermediate form (Hurler-Scheie syndrome) and its molecular pathogenic mechanisms. METHODS: Clinical data, activity of the IDUA enzyme in leukocytes, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.