Heterologous expression and characterization of a rare gaucher disease mutation (c.481C > T) from a canadian aboriginal population using archival tissue samples

Molecular Genetics and Metabolism

Volumn 74, Issue 3, 2001, Pages 345-352

  Sinclair, Graham ^a   Choy, Francis Y M ^a   Ferreira, Patrick ^b  

^a UNIVERSITY OF VICTORIA   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Aboriginal; Archival material; Gaucher disease; Glucocerebrosidase; Mutation analysis

Indexed keywords

4 METHYLUMBELLIFERYL BETA DEXTRO GLUCOPYRANOSIDE; ALGLUCERASE; COMPLEMENTARY DNA; DNA; FORMALDEHYDE; GLUCOPYRANOSIDE; GLUCOSYLCERAMIDASE; NUCLEOTIDE; PROLINE; SERINE; UNCLASSIFIED DRUG;

ABORIGINE; AMINO ACID SUBSTITUTION; APRAXIA; ARTICLE; BACULOVIRUS; BLOOD; CANADA; CASE REPORT; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; ENZYME ACTIVITY; ENZYME REPLACEMENT; FEMALE; FIBROBLAST; GAUCHER DISEASE; GENE EXPRESSION; GENE EXPRESSION SYSTEM; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

UNIDENTIFIED BACULOVIRUS;

EID: 0035196901     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3215     Document Type: Article

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