Variable phenotypic expression of genotypic abnormalities in the porphyrias.

Abstract excerpt

The inherited porphyrias are the consequence of inherited deficiencies of enzymes in the heme synthesis pathway; they exhibit classical Mendelian inheritance patterns. The acute porphyrias (acute intermittent, porphyria variegata, hereditary coproporphyria) result from 50% (approx.) deficiencies of specific enzymes, which demonstrate autosomal dominant inheritance. However, only approx. 10% of subjects who...

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