Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Bahena P et al.
Human Genetics, 2022
34148116 (PubMed )
Supplement: 439_2021_2303_MOESM1_ESM.pdf
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
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Ghosh A et al.
Human Mutation, 2017
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
Structural and clinical implications of amino acid substitutions in α-L-iduronidase: insight into the basis of mucopolysaccharidosis type I.
Saito S et al.
Molecular Genetics and Metabolism, 2014
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.
Bie H et al.
Nature Chemical Biology, 2013
24036510 (PubMed )
Supplement: NIHMS3970-supplement-1.pdf
Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.
Sugawara K et al.
Journal of Human Genetics, 2008
A homology model for human alpha-l-iduronidase: insights into human disease.
Rempel BP et al.
Molecular Genetics and Metabolism, 2005
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
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
Li P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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