title: Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants.
authors.affiliation: Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029-6574.
authors.forename: G S
authors.initials: GS
authors.lastname: He
authors.forename: M E
authors.initials: ME
authors.lastname: Grace
authors.forename: G A
authors.initials: GA
authors.lastname: Grabowski
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype
chemical_list: D004247:DNA; D005962:Glucosylceramidase