Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the α-galactosidase A gene and detection of carriers in Fabry disease

Human Genetics

Volumn 98, Issue 6, 1996, Pages 719-726

  Germain, Dominique ^a,b   Biasotto, Michel ^c   Tosi, Mario ^c   Meo, Tommaso ^c   Kahn, Axel ^b   Poenaru, Livia ^a,b  

^a Université Paris Descartes   (France)

^b INSTITUT COCHIN   (France)

^c INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; DNA FRAGMENT;

ADULT; ARTICLE; CLINICAL ARTICLE; EXON; FABRY DISEASE; FEMALE; FLUORESCENCE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; INTRON; LYSOSOME STORAGE DISEASE; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; RNA SPLICING; X CHROMOSOME LINKAGE;

ADULT; ALPHA-GALACTOSIDASE; CHILD, PRESCHOOL; EXONS; FABRY DISEASE; FEMALE; GENETIC TECHNIQUES; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; PROMOTER REGIONS (GENETICS); SEQUENCE DELETION;

EID: 0029958105     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050292     Document Type: Article

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