Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients

Blood Cells, Molecules, and Diseases

Volumn 32, Issue 1, 2004, Pages 218-225

  Alfonso, Pilar ^a   Rodríguez Rey, José Carlos ^b   Gañán, Alberto ^a   Pérez Calvo, Juan Ignacio ^c   Giralt, Manuel ^d   Giraldo, Pilar ^d   Pocoví, Miguel ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b UNIVERSITY OF CANTABRIA   (Spain)

^c HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^d HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

Author keywords

COS cells; Glucocerebrosidase gene; Residual enzyme activity; Site directed mutagenesis; Transfection

Indexed keywords

4 METHYLUMBELLIFERYL BETA DEXTRO GLUCOPYRANOSIDE; COMPLEMENTARY DNA; GLUCOPYRANOSIDE; GLUCOSYLCERAMIDASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME SUBSTRATE; EXPRESSION VECTOR; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENOTYPE; HUMAN; INFANT; MALE; MOLECULAR CLONING; PATHOGENESIS; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN EXPRESSION; WILD TYPE;

MAMMALIA; VECTORS;

EID: 0742289559     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2003.10.010     Document Type: Article

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