A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH).
Moskowitz
S M
SM
Department of Biological Chemistry, School of Medicine, University of California, Los Angeles 90024-1737.
Tieu
P T
PT
Neufeld
E F
EF
D001483:Base Sequence; D004247:DNA; D005260:Female; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D007585:Jews / Q000235:genetics*; D008002:Libya; D008297:Male; D008969:Molecular Sequence Data; D008059:Mucopolysaccharidosis I / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D017384:Sequence Deletion
D004247:DNA; D007068:Iduronidase