Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
Tuteja
R
R
International Centre for Genetic Engineering and Biotechnology-UNIDO, Trieste, Italy.
Tuteja
N
N
Lilliu
F
F
Bembi
B
B
Galanello
R
R
Cao
A
A
Baralle
F E
FE
D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons / Q000235:genetics*; D005776:Gaucher Disease / Q000201:enzymology*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
D015252:Deoxyribonucleases, Type II Site-Specific; C018492:GCCNNNNNGGC-specific type II deoxyribonucleases; D005962:Glucosylceramidase