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Article

De-novo mutation and sporadic presentation of acute intermittent porphyria.

Lancet (London, England) - 14 Oct 1995

Whatley S D, Roberts A G, Elder G H

Abstract excerpt

Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder characterised by life-threatening neurovisceral attacks, often precipitated by drugs. Prognosis is improved by presymptomatic diagnosis and counselling. We found that 29 of 103 (28%) unrelated patients presented as sporadic cases. One patient had a de-novo mutation. The same mutation has arisen de novo at least three times in 12% of...

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Source

Identifiers

PMID: 7475550
DOI: 10.1016/s0140-6736(95)91692-x

Genes

AIP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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