Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: Comparison with denaturing gradient gel electrophoresis

Clinica Chimica Acta

Volumn 279, Issue 1-2, 1999, Pages 133-143

  Tchernitchko, D ^a   Lamoril, J ^a   Puy, H ^a   Robreau, A M ^a   Bogard, C ^a   Rosipal, R ^b   Gouya, L ^a   Deybach, J C ^a   Nordmann, Y ^a  

^a INSERM   (France)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

AIP, acute intermittent porphyria; DDGE, denaturing gradient gel electrophoresis; HA, heteroduplex analysis; PBGD, porphobilinogen deaminase

Indexed keywords

HETERODUPLEX; PORPHOBILINOGEN DEAMINASE;

ACUTE INTERMITTENT PORPHYRIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; GEL ELECTROPHORESIS; GENE MUTATION; HUMAN; INTERMETHOD COMPARISON; METHODOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

DNA; ELECTROPHORESIS; EXONS; GENETIC SCREENING; HETERODUPLEX ANALYSIS; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MUTATION; POLYMERASE CHAIN REACTION; PORPHYRIA, ACUTE INTERMITTENT; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 0032960380     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(98)00056-4     Document Type: Article

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