Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants.
He
G S
GS
Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, New York 10029-6574.
Grace
M E
ME
Grabowski
G A
GA
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
D004247:DNA; D005962:Glucosylceramidase