Associated Papers
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
Ou L et al.
Orphanet Journal of Rare Diseases, 2017
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Kingma SD et al.
Orphanet Journal of Rare Diseases, 2013
Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.
Sun L et al.
Genetics and Molecular Biology, 2011
alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
Hein LK et al.
Journal of Molecular Biology, 2004
Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.
Alif N et al.
Annals of Human Genetics, 1999
Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs.
Atkinson J et al.
Nucleic Acids Research, 1994
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