Gaucher disease: frequency of the N370S mutation in the Greek population.
Dimitriou
E
E
Moraitou
M
M
Troungos
C
C
Schulpis
K
K
Michelakakis
H
H
D000293:Adolescent; D000328:Adult; D002648:Child; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics; D006115:Greece; D006720:Homozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012017:Referral and Consultation; D055815:Young Adult
D005962:Glucosylceramidase