Mucopolysaccharidosis type I: Identification of 13 novel mutations of the α-L-iduronidase gene

This publication has 12 references indexed in Scilit:

• Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations
  Human Mutation, 1994
• A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH)
  Human Mutation, 1994
• Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene
  Human Molecular Genetics, 1993
• A deletion/insertion mutation in theIDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaeeharidosis IH)
  Human Mutation, 1993
• Mutation in Scheie syndrome (MPS IS): A G→A transition creates new splice site in intron 5 of one IDUA allele
  Human Mutation, 1993
• Structure and sequence of the human α-l-iduronidase gene
  Genomics, 1992
• α-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype
  Human Mutation, 1992
• A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype
  Human Mutation, 1992
• Human alpha-L-iduronidase: cDNA isolation and expression.
  Proceedings of the National Academy of Sciences, 1991
• Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment
  Human Genetics, 1991