Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
Cormand
B
B
Department de Genètica, Universitat de Barcelona, Spain.
Vilageliu
L
L
Balcells
S
S
Gonzàlez-Duarte
R
R
Chabás
A
A
Grinberg
D
D
D001483:Base Sequence; D002478:Cells, Cultured; D017931:DNA Primers; D005091:Exons; D005776:Gaucher Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D005962:Glucosylceramidase / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017433:Protein Structure, Secondary; D013030:Spain
D017931:DNA Primers; D005962:Glucosylceramidase