Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations

Molecular Genetics and Metabolism

Volumn 86, Issue 4, 2005, Pages 466-472

  Pomponio, R J ^b   Cabrera Salazar, M A ^a   Echeverri, O Y ^a   Miller, G ^b   Barrera, L A ^a  

^a PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^b GENZYME CORPORATION   (United States)

Author keywords

Colombian patients; Gaucher disease; GBA; Glucocerebrosidase deficiency; Mutation

Indexed keywords

DNA; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE;

ADOLESCENT; ADULT; ALLELE; ANALYTIC METHOD; ARTICLE; CHILD; CLINICAL ARTICLE; COLOMBIA; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ENZYME ACTIVITY; ENZYME DEFECT; ENZYME DEFICIENCY; ETHNOLOGY; EXON; GAUCHER DISEASE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HISPANIC; HUMAN; INTRON; LYSOSOME STORAGE DISEASE; MOLECULAR WEIGHT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOGENE; RECESSIVE INHERITANCE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COLOMBIA; DNA; DNA MUTATIONAL ANALYSIS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HISPANIC AMERICANS; HUMANS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; SEQUENCE DELETION;

EID: 29144480834     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.026     Document Type: Article

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