Associated Papers
c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.
Peña-Gomar I et al.
The Protein Journal, 2021
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.
Borges P et al.
Frontiers in Molecular Biosciences, 2021
34746235 (PubMed )
Supplement: DataSheet1.xlsx › Suppl1
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.
Lee-Chen GJ et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2002
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
Beesley CE et al.
Human Genetics, 2001
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
Lee-Chen GJ et al.
Clinical Genetics, 1999
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.
Bunge S et al.
Biochimica Et Biophysica Acta, 1998
Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.
Bunge S et al.
Human Mutation, 1995
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