Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: Implications for prognosis and genetic counseling

Blood Cells, Molecules, and Diseases

Volumn 26, Issue 4, 2000, Pages 307-311

  Filocamo, Mirella ^a   Bonuccelli, Gloria ^a   Mazzotti, Raffaella ^a   Giona, Fiorina ^b   Gatti, Rosanna ^a  

^a G GASLINI INSTITUTE   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Gaucher disease; Genetic counseling; Genotyping; Glucocerebrosidase gene; Recombinant allele

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; AGED; ALLELE; ARTICLE; DNA SEQUENCE; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HOMOZYGOSITY; HUMAN; INTRON; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; PSEUDOGENE; RELIABILITY; SEQUENCE ANALYSIS;

EID: 0033748543     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2000.0308     Document Type: Article

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