Associated Papers
A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report.
Kamranjam M et al.
Journal of Pediatric Genetics, 2019
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.
Azab B et al.
Molecular Genetics and Metabolism Reports, 2017
Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples.
Ribeiro D et al.
Isrn Molecular Biology, 2013
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F et al.
Human Mutation, 2011
Select a paper to view details