Identification and expression of acid β-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

Journal of Clinical Investigation

Volumn 99, Issue 10, 1997, Pages 2530-2537

  Grace, Marie E ^a   Desnick, Robert J ^a   Pastores, Gregory M ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Baculoviridae; enzymology; genotype; mutagenesis, site directed; recombinant

Indexed keywords

GLUCOSYLCERAMIDASE; MUTANT PROTEIN;

ADULT; ALLELE; ARTICLE; BACULOVIRUS; CLINICAL ARTICLE; ENZYME ACTIVE SITE; EXON; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SITE DIRECTED MUTAGENESIS;

EID: 0030927207     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI119437     Document Type: Article

References (47)

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