Hematologically important mutations: Gaucher disease.
Beutler
E
E
Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA. beutler@scripps.edu
Gelbart
T
T
D019943:Amino Acid Substitution; D005776:Gaucher Disease / Q000097:blood / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006403:Hematologic Tests; D006801:Humans; D009154:Mutation; D010641:Phenotype
D005962:Glucosylceramidase