Article
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
Clinical chemistry - 1 Jul 2009
Whatley Sharon D, Mason Nicola G, Woolf Jacqueline R, Newcombe Robert G, Elder George H, Badminton Michael N
Abstract excerpt
BACKGROUND: Clinically indistinguishable attacks of acute porphyria occur in acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). There are few evidence-based diagnostic strategies for these disorders. METHODS: The diagnostic sensitivity of mutation detection was determined by sequencing and gene-dosage analysis to search for mutations in 467 sequentially referred,...
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