Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease.
Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
J Y
JY
Wu
M C
MC
Wu
C C
CC
Lee
F J
FJ
Tsai
D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005776:Gaucher Disease / Q000235:genetics* / Q000473:pathology; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D013624:Taiwan
D004247:DNA; D005962:Glucosylceramidase