Article
Evaluation of mutation screening by heteroduplex analysis in acute intermittent porphyria: comparison with denaturing gradient gel electrophoresis.
Clinica chimica acta; international journal of clinical chemistry - 1 Jan 1999
Tchernitchko D, Lamoril J, Puy H, Robreau A M, Bogard C, Rosipal R, Gouya L, Deybach J C, Nordmann Y
Abstract excerpt
Acute intermittent porphyria is the major autosomal dominant form of acute hepatic porphyrias. The disease is due to mutations in the gene encoding for porphobilinogen deaminase (PBGD). Many different strategies have been developed to screen for mutations. However the high prevalence (0.6 per thousand) of PBGD gene defect, the large allelic heterogeneity of mutations (n = 130), and the limitations of the PBGD...
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