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Reagents, Molecular Assay, Gene Anomaly, Mutation, IDUA

Definition : Molecular assay reagents intended to identify mutations in the iduronidase, alpha-L- (IDUA) gene, located at chromosome 4p16.3, which is involved in the hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate; ultimately the gene is involved in breakdown of muccopolysaccarides. Mutations at this locus have been identified in patients with mucopolysaccharidosis type I (MPS1); patients may be classified according to the severity of the disease: mild, intermediate, or severe (known as Scheie's, Hurler-Scheie, and Hurler's syndromes, respectively).

Entry Terms : "Alpha-L-Iduronidase Deficiency Gene Mutation Detection Reagents" , "Schele Syndrome (MPS I S) Gene Mutation Detection Reagents" , "Hurler-Schele Syndrome (MPS I H/S) Gene Mutation Detection Reagents" , "Hurler Syndrome (MPS I H) Gene Mutation Detection Reagents" , "Iduronidase Alpha-L (IDUA) Deficiency Gene Mutation Detection Reagents" , "Type 1 Mucopolysaccharidosis (MPS I) Gene Mutation Detection Reagents" , "IDUA Gene Mutation Detection Reagents"

UMDC code : 24478

   

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