Gaucher disease, a paradigm for single gene defects.
Beutler
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Scripps Research Institute, La Jolla, California 92037, USA.
D000328:Adult; D003001:Cloning, Molecular; D005776:Gaucher Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007585:Jews; D008247:Lysosomes / Q000201:enzymology; D009154:Mutation; D010641:Phenotype; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011770:Pyruvate Kinase / Q000235:genetics
D011770:Pyruvate Kinase; D005962:Glucosylceramidase