Article
Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.
Genetic testing and molecular biomarkers - 1 Dec 2009
Amr Khalda, Katoury Ahmed, Abdel-Hamid Mohamed, Bassiouni Randa, Ibrahim Mona, Fateen Ekram
Abstract excerpt
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder that results from a deficiency in alpha-L-iduronidase (IDUA), which is involved in the degradation of dermatan and heparan sulfates. MPS I has three clinical phenotypes, ranging from the severe Hurler form to the milder Scheie phenotype. In this study, mutational analysis of the IDUA gene in three unrelated Egyptian families with Hurler...
Topics
- Child, Preschool
- DNA Mutational Analysis
- Egypt
- Female
- Humans
- Iduronidase
- Infant
- Mucopolysaccharidosis I
- Mutation
- Pedigree
- Polymorphism, Genetic