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Article

Variable phenotypic expression of genotypic abnormalities in the porphyrias.

Clinica chimica acta; international journal of clinical chemistry - 30 Jul 1993

Hindmarsh J T

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...

Topics

Gene Expression
Genotype
Humans
Phenotype
Porphyrias

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8222280
DOI: 10.1016/0009-8981(93)90235-v

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8222280-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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