Exhaustive screening of the acid β-glucosidase gene, by fluorescence- assisted mismatch analysis using universal primers: Mutation profile and genotype/phenotype correlations in Gaucher disease

American Journal of Human Genetics

Volumn 63, Issue 2, 1998, Pages 415-427

  Germain, Dominique P ^a,b   Puech, Jean Philippe ^a   Caillaud, Catherine ^a,b   Kahn, Axel ^b   Poenaru, Livia ^a,b  

^a Institut Cochin   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; PRIMER DNA;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BASE MISPAIRING; CHILD; CLINICAL ARTICLE; DISEASE CONTROL; FEMALE; FLUORESCENCE ANALYSIS; GAUCHER DISEASE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HAPLOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS;

EID: 0032231639     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301969     Document Type: Article

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