title: Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease.
authors: F Y M
authors: FY
authors: Choy
authors: A
authors: A
authors: Vaags
authors: K
authors: K
authors: Wong
authors: D
authors: D
authors: Macgregor
authors: B
authors: B
authors: Fernandez
authors: C
authors: C
authors: Prasad
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D012150:Polymorphism, Restriction Fragment Length