1342C mutation in Gaucher's disease.
Beutler
E
E
Kattamis
C
C
Sipe
J
J
Lipson
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
D005962:Glucosylceramidase