A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient.
Choy
F Y
FY
Department of Biology, University of Victoria, British Columbia, Canada.
Wei
C
C
Applegarth
D A
DA
Yong
S L
SL
D001483:Base Sequence; D002648:Child; D005091:Exons; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000208:ethnology / Q000235:genetics*; D005796:Genes; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D044465:White People / Q000235:genetics
D005962:Glucosylceramidase