title: 1342C mutation in Gaucher's disease.
authors.forename: E
authors.initials: E
authors.lastname: Beutler
authors.forename: C
authors.initials: C
authors.lastname: Kattamis
authors.forename: J
authors.initials: J
authors.lastname: Sipe
authors.forename: M
authors.initials: M
authors.lastname: Lipson
mesh_terms: 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
chemical_list: D005962:Glucosylceramidase