A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease.
Walley
A J
AJ
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
Harris
A
A
D001483:Base Sequence; D005315:Fetal Diseases / Q000235:genetics; D005776:Gaucher Disease / Q000196:embryology / Q000235:genetics*; D005796:Genes; D005820:Genetic Testing; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
D005962:Glucosylceramidase