Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population.
B
B
García-Rodríguez
P
P
Alfonso
M
M
Mallén
M
M
Pocoví
P
P
Giraldo
D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013030:Spain / Q000453:epidemiology; D044465:White People / Q000235:genetics*
D005962:Glucosylceramidase