Rapid detection of 21-hydroxylase deficiency mutations by allele-specific in vitro amplification and capillary zone electrophoresis

Clinical Chemistry

Volumn 43, Issue 11, 1997, Pages 2121-2127

  Carrera, Paola ^a   Barbieri, Anna Maria ^b   Ferrari, Maurizio ^c   Righetti, Pier Giorgio ^a   Perego, Marilena ^b   Gelfi, Cecilia ^a,b,c  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ALLELE; ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME ACTIVITY; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; REPRODUCIBILITY; RISK ASSESSMENT; RISK FACTOR; ZONE ELECTROPHORESIS;

ADRENAL HYPERPLASIA, CONGENITAL; ALLELES; ELECTROPHORESIS, CAPILLARY; FEMALE; FLUORESCENT DYES; GENE AMPLIFICATION; HUMANS; LASERS; MALE; ORGANIC CHEMICALS; POINT MUTATION; POLYMERASE CHAIN REACTION; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SPECTROMETRY, FLUORESCENCE; STEROID 21-HYDROXYLASE;

EID: 0030716196     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/43.11.2121     Document Type: Article

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