A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes gaucher disease

Blood Cells, Molecules, and Diseases

Volumn 26, Issue 5, 2000, Pages 409-416

  Cormand, Bru ^a   Díaz, Anna ^a   Grinberg, Daniel ^a   Chabäs, Amparo ^b   Vilageliu, Lluïsa ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUCOSYLCERAMIDASE; NUCLEOTIDE;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CROSSING OVER; DNA FLANKING REGION; FUSION GENE; GAUCHER DISEASE; GENE DELETION; GENE FUSION; GENE MUTATION; GENETIC RECOMBINATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; SEQUENCE ANALYSIS; SOUTHERN BLOTTING;

EID: 0034521151     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2000.0317     Document Type: Article

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